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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Trigriluzole Trigriluzole 0 2
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
ABL1 A287V missense unknown ABL1 A287V lies within the protein kinase domain of the Abl1 protein (UniProt.org). A287V has been identified in the scientific literature (PMID: 26603839, PMID: 28990873), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 A380T missense unknown ABL1 A380T lies within the protein kinase domain of the Abl1 protein (UniProt.org). A380T has been identified in the scientific literature (PMID: 29434953), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 A397P missense unknown ABL1 A397P lies within the protein kinase domain of the Abl1 protein (UniProt.org). A397P has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 C330G missense unknown ABL1 C330G lies within the protein kinase domain of the Abl1 protein (UniProt.org). C330G has been identified in the scientific literature (PMID: 19373669), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 C475W missense unknown ABL1 C475W lies within the protein kinase domain of the Abl1 protein (UniProt.org). C475W has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 D363G missense unknown ABL1 D363G lies within the protein kinase domain of the Abl1 protein (UniProt.org). D363G has been associated with resistance to selected ABL1 inhibitors in the context of BCR-ABL1 (PMID: 37123466), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 E1085K missense unknown ABL1 E1085K lies within the F-actin-binding region of the Abl1 protein (UniProt.org). E1085K has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E275D missense unknown ABL1 E275D lies within the protein kinase domain of the Abl1 protein (UniProt.org). E275D has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E279K missense unknown ABL1 E279K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279K has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 16754879), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 E279V missense unknown ABL1 E279V lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279V has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E279W missense unknown ABL1 E279W lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279W has not been characterized in the scientific literature and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E281K missense unknown ABL1 E281K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E281K has been identified in the scientific literature (PMID: 21193419, PMID: 26603839, PMID: 33538150), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Sep 2025).
ABL1 E282D missense unknown ABL1 E282D lies within the protein kinase domain of the Abl1 protein (UniProt.org). E282D has been identified in the scientific literature (PMID: 26603839, PMID: 12654249), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E292L missense unknown ABL1 E292L lies within the protein kinase domain of the Abl1 protein (UniProt.org). E292L has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E355A missense unknown ABL1 E355A lies within the protein kinase domain of the Abl1 protein (UniProt.org). E355A has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 E355G missense unknown ABL1 E355G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E355G has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28278078), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 E450G missense unknown ABL1 E450G lies within the protein kinase domain of the Abl1 protein (UniProt.org). E450G has been identified in the scientific literature (PMID: 25132497, PMID: 35399694), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 E459K missense unknown ABL1 E459K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E459K has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 19201023, PMID: 28657534), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 E507G missense unknown ABL1 E507G does not lie within any known functional domains of the Abl1 protein (UniProt.org). E507G has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 F311I missense unknown ABL1 F311I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 25132497, PMID: 26582647), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F311L missense unknown ABL1 F311L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F311L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F317I missense unknown ABL1 F317I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 and another secondary drug resistance mutation (PMID: 25132497), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F317L missense unknown ABL1 F317L lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317L has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30787317), and demonstrates reduced Abl1 kinase activity and transformation activity in the context of BCR-ABL1 compared to wild-type BCR-ABL1 (PMID: 17164333), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 F317R missense unknown ABL1 F317R lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 F317V missense unknown ABL1 F317V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F317V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 15705718), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F359C missense unknown ABL1 F359C lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359C has been identified as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 19798095, PMID: 26773037), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F359I missense unknown ABL1 F359I lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359I has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F359V missense unknown ABL1 F359V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F359V has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040, PMID: 30711891), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 F401V missense unknown ABL1 F401V lies within the protein kinase domain of the Abl1 protein (UniProt.org). F401V has been identified in the scientific literature (PMID: 39440695), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jan 2026).
ABL1 F486S missense unknown ABL1 F486S lies within the protein kinase domain of the Abl1 protein (UniProt.org). F486S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 G250H missense unknown ABL1 G250H lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250H has been identified in the scientific literature (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 G250R missense unknown ABL1 G250R lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250R has been identified in the scientific literature (PMID: 17982022, PMID: 28801986), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 G250W missense unknown ABL1 G250W lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250W has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 G251D missense unknown ABL1 G251D lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251D has been identified in the scientific literature (PMID: 17947479), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 G251E missense unknown ABL1 G251E lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251E has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 G463S missense unknown ABL1 G463S lies within the protein kinase domain of the Abl1 protein (UniProt.org). G463S has been associated with resistance to BCR-ABL inhibitors in the context of BCR-ABL1 (PMID: 31826340), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 H295dup duplication unknown ABL1 H295dup indicates the insertion of the duplicate amino acid, histidine (H)-295, in the protein kinase domain of the Abl1 protein (UniProt.org). H295dup has been identified in sequencing studies (PMID: 21442193), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2026).
ABL1 H396R missense unknown ABL1 H396R lies within the protein kinase domain of the Abl1 protein (UniProt.org). H396R has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 I432M missense unknown ABL1 I432M lies within the protein kinase domain of the Abl1 protein (UniProt.org). I432M has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 I502L missense unknown ABL1 I502L does not lie within any known functional domains of the Abl1 protein (UniProt.org). I502L has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 K262N missense unknown ABL1 K262N lies within the protein kinase domain of the Abl1 protein (UniProt.org). K262N has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 K262T missense unknown ABL1 K262T lies within the protein kinase domain of the Abl1 protein (UniProt.org). K262T confers resistance to select tyrosine kinase inhibitors (PMID: 39440695), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jan 2026). Y
ABL1 K294E missense unknown ABL1 K294E lies within the protein kinase domain of the Abl1 protein (UniProt.org). K294E has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 K357dup duplication unknown ABL1 K357dup indicates the insertion of the duplicate amino acid, lysine (K)-357, in the protein kinase domain of the Abl1 protein (UniProt.org). K357dup has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 22387050), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Mar 2026). Y
ABL1 K609del deletion unknown ABL1 K609del (also reported as K628del in isoform IB) results in the deletion of an amino acid in nuclear localization signal motif 1 of the Abl1 protein at amino acid 609 (UniProt.org). K609del has been identified in the scientific literature (PMID: 40989683), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 L248R missense unknown ABL1 L248R lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248R has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928, PMID: 31493432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 L248V missense unknown ABL1 L248V lies within the protein kinase domain of the Abl1 protein (UniProt.org). L248V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 38643492), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 L298V missense unknown ABL1 L298V lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L298V has been demonstrated to confer drug resistance in the context of BCR-ABL1 (PMID: 27868464), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 L302H missense unknown ABL1 L302H lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 L302H has been associated with secondary drug resistance in the context of an ABL1 fusion (PMID: 33390067), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 L384M missense unknown ABL1 L384M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L384M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 L387M missense unknown ABL1 L387M lies within the protein kinase domain of the Abl1 protein (UniProt.org). L387M has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28451802), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 M237R missense unknown ABL1 M237R does not lie within any known functional domains of the Abl1 protein (UniProt.org). M237R has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 M237V missense unknown ABL1 M237V does not lie within any known functional domains of the Abl1 protein (UniProt.org). M237V has been identified in the scientific literature (PMID: 26603839, PMID: 16527898, PMID: 20595523), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 M244V missense unknown ABL1 M244V lies within the protein kinase domain of the Abl1 protein (UniProt.org). M244V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 38643492), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 M343T missense unknown ABL1 M343T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M343T has been identified in the scientific literature (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 M388L missense unknown ABL1 M388L lies within the protein kinase domain of the Abl1 protein (UniProt.org). M388L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 M437I missense unknown ABL1 M437I lies within the protein kinase domain of the Abl1 protein (UniProt.org). M437I has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 N368S missense unknown ABL1 N368S lies within the protein kinase domain of the Abl1 protein (UniProt.org). N368S has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 24456693), and results in increased cell proliferation (PMID: 34750265), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 P223S missense unknown ABL1 P223S does not lie within any known functional domains of the Abl1 protein (UniProt.org). P223S has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 P310L missense unknown ABL1 P310L lies within the protein kinase domain of the Abl1 protein (UniProt.org). P310L has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 P918S missense unknown ABL1 P918S lies within the DNA-binding domain of the Abl1 protein (UniProt.org). P918S has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 P980L missense unknown ABL1 P980L lies within the F-actin-binding region of the Abl1 protein (UniProt.org). P980L has not been characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 Q252H missense unknown ABL1 Q252H lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q252H results in a loss of inhibitor binding and has also been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 16046538, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 Q346L missense unknown ABL1 Q346L lies within the protein kinase domain of the Abl1 protein (UniProt.org). Q346L has been identified in the scientific literature (PMID: 21762985), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 R239C missense unknown ABL1 R239C does not lie within any known functional domains of the Abl1 protein (UniProt.org). R239C has been identified in sequencing studies (PMID: 29269125), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 R239G missense unknown ABL1 R239G does not lie within any known functional domains of the Abl1 protein (UniProt.org). R239G has been identified in the scientific literature (PMID: 39440695), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jan 2026).
ABL1 R362T missense unknown ABL1 R362T lies within the protein kinase domain of the Abl1 protein (UniProt.org). R362T has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 R386M missense unknown ABL1 R386M lies within the protein kinase domain of the Abl1 protein (UniProt.org). R386M has been identified in the scientific literature (PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 R516L missense unknown ABL1 R516L does not lie within any known functional domains of the Abl1 protein (UniProt.org). R516L has been identified in the scientific literature (PMID: 39440695), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jan 2026).
ABL1 S417Y missense unknown ABL1 S417Y lies within the protein kinase domain of the Abl1 protein (UniProt.org). S417Y has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 30082224), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 S972L missense unknown ABL1 S972L lies in the F-actin-binding region of the Abl1 protein (UniProt.org). S972L has been identified in sequencing studies (PMID: 25082755), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025).
ABL1 T277I missense unknown ABL1 T277I lies within the protein kinase domain of the Abl1 protein (UniProt.org). T277I has been identified in sequencing studies (PMID: 26164066, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 T315A missense unknown ABL1 T315A lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315A has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 17339191, PMID: 17710227, PMID: 21562040), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315C missense unknown ABL1 T315C lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315C is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 T315D missense unknown ABL1 T315D lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315D is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315E missense unknown ABL1 T315E lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315E is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315F missense unknown ABL1 T315F lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315F is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315G missense unknown ABL1 T315G lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315G is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 T315H missense unknown ABL1 T315H lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315H is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315K missense unknown ABL1 T315K lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315K is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315L missense unknown ABL1 T315L lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 27813432), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315M missense unknown ABL1 T315M lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315M is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402, PMID: 31543464) and demonstrates catalytic efficiency (kcat/km) similar to wild-type Abl1 in an in vitro assay (PMID: 30684523), but has not been fully biochemically characterized and therefore, its effect on Abl1 protein function is unknown. Y
ABL1 T315N missense unknown ABL1 T315N lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315N has been associated with resistance to Abl1 inhibitors (PMID: 16046538), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315P missense unknown ABL1 T315P lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315P is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 T315Q missense unknown ABL1 T315Q lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315Q is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315R missense unknown ABL1 T315R lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315R is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). Y
ABL1 T315S missense unknown ABL1 T315S lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315S is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 T315V missense unknown ABL1 T315V lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315V has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 23044928), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 T315W missense unknown ABL1 T315W lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315W is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 T315Y missense unknown ABL1 T315Y lies within the protein kinase domain of the Abl1 protein (UniProt.org). T315Y is associated with Abl1 inhibitor resistance in the context of BCR-ABL1 (PMID: 26511402), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 V299L missense unknown ABL1 V299L lies within the protein kinase domain of the Abl1 protein (UniProt.org). ABL1 V299L has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 18242697, PMID: 23086624, PMID: 30419862), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 V338A missense unknown ABL1 V338A lies within the protein kinase domain of the Abl1 protein (UniProt.org). V338A has been identified in the scientific literature (PMID: 39300220), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jan 2026).
ABL1 V379I missense unknown ABL1 V379I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V379I has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 28467002), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). Y
ABL1 V422I missense unknown ABL1 V422I lies within the protein kinase domain of the Abl1 protein (UniProt.org). V422I has been identified in sequencing studies (PMID: 20595523), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ABL1 Y456C missense unknown ABL1 Y456C lies within the protein kinase domain of the Abl1 protein (UniProt.org). Y456C has been identified in the scientific literature (PMID: 23355941, PMID: 26603839), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025).
ALK A1015T missense unknown ALK A1015T lies within the EGF-like region of the Alk protein (UniProt.org). A1015T has been identified in the scientific literature (PMID: 37000961), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK A1047T missense unknown ALK A1047T lies within the transmembrane domain of the Alk protein (UniProt.org). A1047T has been identified in sequencing studies (PMID: 28524162, PMID: 29050249, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK A1200_G1201delinsW indel unknown ALK A1200_G1201delinsW results in deletion of an alanine (A) and a glycine (G) from aa 1200 to aa 1201 in the protein kinase domain of the Alk protein, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). A1200_G1201delinsW has been associated with secondary drug resistance to some ALK inhibitors (PMID: 34548910), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK A1266D missense unknown ALK A1266D lies within the protein kinase domain of the Alk protein (UniProt.org). A1266D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK A528T missense unknown ALK A528T lies within MAM domain 2 of the Alk protein (UniProt.org). A528T has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK C1156F missense unknown ALK C1156F lies within the protein kinase domain of the Alk protein (UniProt.org). C1156F has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034, PMID: 30322862) and other Alk rearrangements (PMID: 36203454), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025). Y
ALK C1156Y missense unknown ALK C1156Y lies within the protein kinase domain of the Alk protein (UniProt.org). C1156Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 21613408, PMID: 20979473, PMID: 27490033, PMID: 27045755), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK C1235R missense unknown ALK C1235R lies within the protein kinase domain of the Alk protein (UniProt.org). C1235R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 38448512), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025). Y
ALK C990R missense unknown ALK C990R lies within the extracellular domain of the Alk protein (UniProt.org). C990R results in increased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK D1203N missense unknown ALK D1203N lies within the protein kinase domain of the Alk protein (UniProt.org). D1203N has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 35123209, PMID: 27432227, PMID: 28434515), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK D1225N missense unknown ALK D1225N lies within the protein kinase domain of the Alk protein (UniProt.org). D1225N has been identified in the scientific literature (PMID: 37529699), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK D1529G missense unknown ALK D1529G lies within the cytoplasmic domain of the Alk protein (UniProt.org). D1529G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK D94N missense unknown ALK D94N lies within the extracellular domain of the Alk protein (UniProt.org). D94N has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK E1129V missense unknown ALK E1129V lies within the protein kinase domain of the Alk protein (UniProt.org). E1129V has been identified in the scientific literature (PMID: 34890832, PMID: 36093526, PMID: 33161228), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK E1154K missense unknown ALK E1154K lies within the protein kinase domain of the Alk protein (UniProt.org). E1154K has been identified in the scientific literature (PMID: 31585938, PMID: 38448512), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK E1197K missense unknown ALK E1197K lies within the protein kinase domain of the Alk protein (UniProt.org). E1197K has been identified in the scientific literature (PMID: 24755198, PMID: 38066711), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026).
ALK E1210K missense unknown ALK E1210K lies within the protein kinase domain of the Alk protein (UniProt.org). E1210K has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 29650534, PMID: 35123209, PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK E1303K missense unknown ALK E1303K lies within the protein kinase domain of the Alk protein (UniProt.org). E1303K has been identified in the scientific literature (PMID: 29978950), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK E1400D missense unknown ALK E1400D lies within the cytoplasmic domain of the Alk protein (UniProt.org). E1400D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK E1407K missense unknown ALK E1407K lies within the cytoplasmic domain of the Alk protein (UniProt.org). E1407K has been identified in the scientific literature (PMID: 29290262, PMID: 35042152), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK E310D missense unknown ALK E310D lies within MAM domain 1 of the Alk protein (UniProt.org). E310D has been identified in sequencing studies (PMID: 28915720), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK E717K missense unknown ALK E717K lies within the extracellular domain of the Alk protein (UniProt.org). E717K has been identified in the scientific literature (PMID: 38215117), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK E803Q missense unknown ALK E803Q lies within the extracellular domain of the Alk protein (UniProt.org). E803Q has been identified in the scientific literature (PMID: 39267820), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK E862D missense unknown ALK E862D lies within the extracellular domain of the Alk protein (UniProt.org). E862D has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK F1245I missense unknown ALK F1245I lies within the protein kinase domain of the Alk protein (UniProt.org). F1245I has been identified in the scientific literature (PMID: 30778092, PMID: 34282791, PMID: 37523146), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK F1245L missense unknown ALK F1245L lies within the protein kinase domain of the Alk protein (UniProt.org). F1245L has been identified in the scientific literature (PMID: 30867766, PMID: 18923524), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK F1245Q missense unknown ALK F1245Q lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK F1245Y missense unknown ALK F1245Y lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Y has been identified in the scientific literature (PMID: 37012551, PMID: 30523111), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK G1123D missense unknown ALK G1123D lies within the protein kinase domain of the Alk protein (UniProt.org). G1123D has been demonstrated to confer drug resistance in cell culture (PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK G1123S missense unknown ALK G1123S lies within the protein kinase domain of the Alk protein (UniProt.org). G1123S has been demonstrated to confer drug resistance in culture (PMID: 26134233, PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK G1128S missense unknown ALK G1128S lies within the protein kinase domain of the Alk protein (UniProt.org). G1128S has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK G1202del deletion unknown ALK G1202del results in the deletion of an amino acid in the protein kinase domain of the Alk protein at amino acid 1202 (UniProt.org). G1202del has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026). Y
ALK G1202K missense unknown ALK G1202K lies within the protein kinase domain of the Alk protein (UniProt.org). G1202K has been identified in the scientific literature (PMID: 33790576), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK G1202L missense unknown ALK G1202L lies within the protein kinase domain of the Alk protein (UniProt.org). G1202L has been identified in the scientific literature (PMID: 33380260), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK G1202R missense gain of function ALK G1202R lies within the protein kinase domain of the Alk protein (UniProt.org). G1202R confers a gain of function to the Alk protein as indicated by increased colony formation, decreased Cdh1 expression, increased migration and invasion, and increased expression of metastatic factors Cdh2, Vim, Mmp2, Mmp9, and Slug in the context of EML4-ALK compared to expression of EML4-ALK alone in cell culture (PMID: 35085771), and has been demonstrated to confer resistance to Alk inhibitors in the context of ALK fusions (PMID: 22277784, PMID: 24736079, PMID: 35085771). Y
ALK G1269A missense unknown ALK G1269A lies within the protein kinase domain of the Alk protein (UniProt.org). G1269A has been demonstrated to occur as a secondary resistance mutation in the context of ALK rearrangement (PMID: 30675302, PMID: 35123209, PMID: 29872693), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026). Y
ALK G1269E missense unknown ALK G1269E lies within the protein kinase domain of the Alk protein (UniProt.org). G1269E has not been characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK G689V missense unknown ALK G689V lies within the extracellular domain of the Alk protein (UniProt.org). G689V has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK G746C missense unknown ALK G746C lies within the extracellular domain of the Alk protein (UniProt.org). G746C has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK G922R missense unknown ALK G922R lies within the extracellular domain of the Alk protein (UniProt.org). G922R has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK H1030P missense unknown ALK H1030P lies within the extracellular domain of the ALK protein (UniProt.org). H1030P has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK I1171S missense unknown ALK I1171S lies within the protein kinase domain of the Alk protein (UniProt.org). I1171S has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859, PMID: 25393796, PMID: 26464158), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026). Y
ALK I1179V missense unknown ALK I1179V lies within the protein kinase domain of the Alk protein (UniProt.org). I1179V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK I1268V missense unknown ALK I1268V lies within the protein kinase domain of the Alk protein (UniProt.org). I1268V has been identified in the scientific literature (PMID: 31585938), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK I1461V missense unknown ALK I1461V lies within the cytoplasmic domain of the Alk protein (UniProt.org). I1461V has been identified in sequencing studies (PMID: 36422072, PMID: 36819147, PMID: 37964559), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK K894T missense unknown ALK K894T lies within the extracellular domain of the Alk protein (UniProt.org). K894T has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK L1122V missense unknown ALK L1122V lies within the protein kinase domain of the Alk protein (UniProt.org). L1122V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 29650534, PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK L1152M missense unknown ALK L1152M lies within the protein kinase domain of the Alk protein (UniProt.org). L1152M has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK L1152P missense unknown ALK L1152P lies within the protein kinase domain of the Alk protein (UniProt.org). L1152P has been demonstrated to confer drug resistance in the context of ALK rearrangement in culture (PMID: 24675041), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025). Y
ALK L1152R missense unknown ALK L1152R lies within the protein kinase domain of the Alk protein (UniProt.org). L1152R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 35123209, PMID: 36064579, PMID: 27091190), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK L1152V missense unknown ALK L1152V lies within the protein kinase domain of the Alk protein (UniProt.org). L1152V is associated with decreased ALK inhibitor sensitivity in the context of an ALK fusion in culture (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK L1196Q missense unknown ALK L1196Q lies within the protein kinase domain of the Alk protein (UniProt.org). L1196Q has been demonstrated to confer resistance to Alk inhibitors in the context of ALK rearrangements (PMID: 30662002, PMID: 33209633, PMID: 38290249), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK L1198R missense unknown ALK L1198R lies within the protein kinase domain of the Alk protein (UniProt.org). L1198R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 38448512), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025). Y
ALK L1204V missense unknown ALK L1204V lies within the protein kinase domain of the Alk protein (UniProt.org). L1204V has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK L1256F missense unknown ALK L1256F lies within the protein kinase domain of the Alk protein (UniProt.org). L1256F demonstrates transforming and tumorigenic activity and confers drug resistance in the context of ALK fusions (PMID: 29650534, PMID: 30662002), but has not been individually characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025). Y
ALK L1319V missense unknown ALK L1319V lies within the protein kinase domain of the Alk protein (UniProt.org). L1319V has been identified in the scientific literature (PMID: 33776709), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK L204P missense unknown ALK L204P lies within the extracellular domain of the Alk protein (UniProt.org). L204P has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026).
ALK L868Q missense unknown ALK L868Q lies within the extracellular domain of the Alk protein (UniProt.org). L868Q has not been characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK M1166V missense unknown ALK M1166V lies within the protein kinase domain of the Alk protein (UniProt.org). M1166V has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK M1478T missense unknown ALK M1478T lies within the cytoplasmic domain of the Alk protein (UniProt.org). M1478T has been identified in sequencing studies (PMID: 27852271), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK N1178H missense unknown ALK N1178H lies within the protein kinase domain of the Alk protein (UniProt.org). N1178H has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026). Y
ALK P1094H missense unknown ALK P1094H lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1094H has been identified in the scientific literature (PMID: 33166721), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P1112Q missense unknown ALK P1112Q lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1112Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P1139S missense unknown ALK P1139S lies within the protein kinase domain of the Alk protein (UniProt.org). P1139S has been associated with decreased sensitivity to some ALK inhibitors in the context of NPM1-ALK (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK P1298S missense unknown ALK P1298S lies within the protein kinase domain of the Alk protein (UniProt.org). P1298S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P1543S missense unknown ALK P1543S lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1543S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK P157S missense unknown ALK P157S lies within the extracellular domain of the Alk protein (UniProt.org). P157S has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P1599S missense unknown ALK P1599S lies within the cytoplasmic domain of the Alk protein (UniProt.org). P1599S has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P279L missense unknown ALK P279L lies within MAM domain 1 of the Alk protein (UniProt.org). P279L has been identified in sequencing studies (PMID: 31209238), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P36S missense unknown ALK P36S lies within the extracellular domain of the Alk protein (UniProt.org). P36S has been identified in sequencing studies (PMID: 20579941, PMID: 26580448), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK P40L missense unknown ALK P40L lies within the extracellular domain of the Alk protein (UniProt.org). P40L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK Q1146K missense unknown ALK Q1146K lies within the protein kinase domain of the Alk protein (UniProt.org). Q1146K has been identified in the scientific literature (PMID: 34687488), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK Q1146P missense unknown ALK Q1146P lies within the protein kinase domain of the Alk protein (UniProt.org). Q1146P has been identified in the scientific literature (PMID: 31894386), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK Q1188_L1190del deletion unknown ALK Q1188_L1190del results in the deletion of three amino acids in the protein kinase domain of the Alk protein from amino acids 1188 to 1190 (UniProt.org). Q1188_L1190del has been identified in the scientific literature (PMID: 33887694, PMID: 37304651), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025).
ALK R1113Q missense unknown ALK R1113Q lies within the cytoplasmic domain of the Alk protein (UniProt.org). R1113Q has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK R1181H missense unknown ALK R1181H lies within the protein kinase domain of the Alk protein (UniProt.org). R1181H results in increased cytokine-independent growth and phosphorylation of Stat3, Erk, Akt, and demonstrates resistance to first generation Alk inhibitors in the context of EML4-ALK in culture (PMID: 38960389), but has not been individually characterized and therefore, its effect on Alk protein function is unknown. Y
ALK R1212H missense unknown ALK R1212H lies within the protein kinase domain of the Alk protein (UniProt.org). R1212H has been identified in sequencing studies (PMID: 21499247, PMID: 28912153, PMID: 28581676), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK R284K missense unknown ALK R284K lies within MAM domain 1 of the Alk protein (UniProt.org). R284K has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK R291C missense unknown ALK R291C lies within MAM domain 1 of the Alk protein (UniProt.org). R291C has been identified in sequencing studies (PMID: 24755471, PMID: 36502690), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK R311H missense unknown ALK R311H lies within MAM domain 1 of the Alk protein (UniProt.org). R311H has been identified in sequencing studies (PMID: 30410351, PMID: 23202128, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK R395H missense unknown ALK R395H lies within MAM domain 1 of the Alk protein (UniProt.org). R395H has been identified in sequencing studies (PMID: 22877736, PMID: 36050548, PMID: 38388726), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2025).
ALK S1053F missense unknown ALK S1053F lies within the transmembrane domain of the Alk protein (UniProt.org). S1053F has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK S1189C missense unknown ALK S1189C lies within the protein kinase domain of the Alk protein (UniProt.org). S1189C has been identified in the scientific literature (PMID: 36506539), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK S1206C missense unknown ALK S1206C lies within the protein kinase domain of the Alk protein (UniProt.org). S1206C has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025). Y
ALK S1206F missense unknown ALK S1206F lies within the protein kinase domain of the Alk protein (UniProt.org). S1206F has been identified in the scientific literature (PMID: 27565908, PMID: 31712133, PMID: 34589977), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2026).
ALK S1206R missense unknown ALK S1206R lies within the protein kinase domain of the Alk protein (UniProt.org). S1206R has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025). Y
ALK S1206Y missense unknown ALK S1206Y lies within the protein kinase domain of the Alk protein (UniProt.org). S1206Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK rearrangements (PMID: 22277784, PMID: 24675041, PMID: 25727400), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025). Y
ALK T1151dup duplication unknown ALK T1151dup indicates the insertion of the duplicate amino acid, threonine (T)-1151, in the protein kinase domain of the Alk protein (UniProt.org). T1151dup has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22277784, PMID: 20695522), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Sep 2025). Y
ALK T1151K missense unknown ALK T1151K lies within the protein kinase domain of the Alk protein (UniProt.org). T1151K has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK fusions (PMID: 28676215, PMID: 30519133), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025). Y
ALK T1151R missense unknown ALK T1151R lies within the protein kinase domain of the Alk protein (UniProt.org). T1151R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK rearrangement (PMID: 31027750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025). Y
ALK T429I missense unknown ALK T429I lies within the extracellular domain of the Alk protein (UniProt.org). T429I has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK T535N missense unknown ALK T535N lies within MAM domain 2 of the Alk protein (UniProt.org). T535N has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK V1180L missense unknown ALK V1180L lies within the protein kinase domain of the Alk protein (UniProt.org). V1180L has been demonstrated to occur as a secondary resistance mutation in the context of EML4-ALK (PMID: 25228534, PMID: 27432227, PMID: 35324529), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025). Y
ALK V1180Y missense unknown ALK V1180Y lies within the protein kinase domain of the Alk protein (UniProt.org). V1180Y has been identified in the scientific literature (PMID: 36096442), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Oct 2025).
ALK V1413G missense unknown ALK V1413G lies within the cytoplasmic domain of the Alk protein (UniProt.org). V1413G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK V163L missense unknown ALK V163L lies within the extracellular domain of the Alk protein (UniProt.org). V163L has been identified in sequencing studies (PMID: 24728327, PMID: 34367235), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK V198M missense unknown ALK V198M lies within the extracellular domain of the Alk protein (UniProt.org). V198M has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK V66A missense unknown ALK V66A lies within the extracellular domain of the Alk protein (UniProt.org). V66A has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK V66G missense unknown ALK V66G lies within the extracellular domain of the Alk protein (UniProt.org). V66G has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
ALK V757M missense unknown ALK V757M lies within the extracellular domain of the Alk protein (UniProt.org). V757M has been identified in the scientific literature (PMID: 37900840, PMID: 26933125, PMID: 24710307), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025).
APC A1002G missense unknown APC A1002G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1002G has been identified in the scientific literature (PMID: 34759319, PMID: 14999774), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC A1225G missense unknown APC A1225G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1225G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC A1296V missense unknown APC A1296V lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1296V has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1305G missense unknown APC A1305G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1305G has been identified in sequencing studies (PMID: 18369740), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1347T missense unknown APC A1347T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1347T has been identified in sequencing studies (PMID: 22622578, PMID: 25343854), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1358E missense unknown APC A1358E lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1358E has been identified in sequencing studies (PMID: 10440612), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1366V missense unknown APC A1366V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1366V has been identified in the scientific literature (PMID: 21901162), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1446_Q1447insDIA insertion unknown APC A1446_Q1447insDIA results in the insertion of three amino acids in the Apc protein between amino acids 1446 and 1447 (UniProt.org). A1446_Q1447insDIA has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2025).
APC A1470T missense unknown APC A1470T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1470T has been identified in sequencing studies (PMID: 8242071, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1475V missense unknown APC A1475V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1475V has been identified in sequencing studies (PMID: 18844223), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1508V missense unknown APC A1508V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1508V has been identified in sequencing studies (PMID: 20569184), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A1553T missense unknown APC A1553T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1553T has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A214V missense unknown APC A214V lies within a coiled-coil domain of the Apc protein (UniProt.org). A214V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC A2267V missense unknown APC A2267V does not lie within any known functional domains of the Apc protein (UniProt.org). A2267V has been identified in sequencing studies (PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC A2690T missense unknown APC A2690T lies within a region of the Apc protein necessary for interaction with DLG1 and MAPRE1 (UniProt.org). A2690T has been identified in sequencing studies (PMID: 24082139, PMID: 34622229), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC A888S missense unknown APC A888S does not lie within any known functional domains of the Apc protein (UniProt.org). A888S has been identified in sequencing studies (PMID: 27034166), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC C1410S missense unknown APC C1410S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). C1410S has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2025).
APC C1578fs frameshift unknown APC C1578fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1578 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1578fs has been identified in sequencing studies (PMID: 20102718), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1003N missense unknown APC D1003N lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1003N has been identified in sequencing studies (PMID: 25545608, PMID: 23085758), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1022G missense unknown APC D1022G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1022G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1058G missense unknown APC D1058G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1058G has been identified in the scientific literature (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1083E missense unknown APC D1083E lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1083E has been identified in sequencing studies (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1297A missense unknown APC D1297A lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1297A has been identified in sequencing studies (PMID: 17257127), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1422H missense unknown APC D1422H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422H has been identified in sequencing studies (PMID: 8221638), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1422N missense unknown APC D1422N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422N has been identified in sequencing studies (PMID: 18632876), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1425A missense unknown APC D1425A lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1425A has been identified in sequencing studies (PMID: 8055154), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1566N missense unknown APC D1566N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1566N has been identified in sequencing studies (PMID: 22864938), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC D1636fs frameshift unknown APC D1636fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1636 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1636fs has been identified in sequencing studies (PMID: 36013219, PMID: 35939113), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC D1636Gfs*2 frameshift unknown APC D1636Gfs*2 indicates a shift in the reading frame starting at amino acid 1636 and terminating two residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). D1636Gfs*2 has been identified in sequencing studies (PMID: 36013219, PMID: 37232746), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC D2490N missense unknown APC D2490N lies within a region of the APC protein necessary for interaction with DLG1 (UniProt.org). D2490N has been identified in sequencing studies (PMID: 32913981, PMID: 38874686), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC E1284K missense unknown APC E1284K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1284K has been identified in the scientific literature (PMID: 28352668, PMID: 15072829), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1286G missense unknown APC E1286G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1286G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E129Q missense unknown APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1306K missense unknown APC E1306K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1306K has been identified in sequencing studies (PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1317Q missense unknown APC E1317Q lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1317Q has been identified in the scientific literature (PMID: 14578138, PMID: 32087273, PMID: 33864517), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1374K missense unknown APC E1374K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1374K has been identified in sequencing studies (PMID: 27311873, PMID: 26725423), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1408V missense unknown APC E1408V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1408V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1494K missense unknown APC E1494K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1494K has been identified in sequencing studies (PMID: 29137355), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC E1547K missense unknown APC E1547K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1547K has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC G1312R missense unknown APC G1312R lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). G1312R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC G1339_S1340dup duplication unknown APC G1339_S1340dup indicates the insertion of two duplicate amino acids, glycine (G)-1339 through serine (S)-1340, in the Apc protein (UniProt.org). G1339_S1340dup has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2026).
APC G1499R missense unknown APC G1499R lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). G1499R has been identified in sequencing studies (PMID: 22848674), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC G2303R missense unknown APC G2303R does not lie within any known functional domains of the Apc protein (UniProt.org). G2303R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC G2502S missense unknown APC G2502S lies within a region of the APC protein necessary for interaction with DLG1 (UniProt.org). G2502S has been identified in the scientific literature (PMID: 18612690, PMID: 24790607, PMID: 20233475), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC G471E missense unknown APC G471E lies within ARM repeat 1 of the Apc protein (UniProt.org). G471E has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC G907R missense unknown APC G907R does not lie within any known functional domains of the Apc protein (UniProt.org). G907R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC H1013D missense unknown APC H1013D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). H1013D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC H2116R missense unknown APC H2116R does not lie within any known functional domains of the Apc protein (UniProt.org). H2116R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC I1913Afs*8 frameshift unknown APC I1913Afs*8 indicates a shift in the reading frame starting at amino acid 1913 and terminating 8 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1913Afs*8 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC I1918V missense unknown APC I1918V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). I1918V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC I1926M missense unknown APC I1926M lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). I1926M has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC I2738T missense unknown APC I2738T lies within a region of the Apc protein necessary for interaction with DLG1 and MAPRE1 (UniProt.org). I2738T has been identified in sequencing studies (PMID: 9950360), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2026).
APC I880T missense unknown APC I880T does not lie within any known functional domains of the Apc protein (UniProt.org). I880T has been identified in sequencing studies (PMID: 9419979), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC K1310D missense unknown APC K1310D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). K1310D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC K1817fs frameshift unknown APC K1817fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1817 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1817fs has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC L2253I missense unknown APC L2253I does not lie within any known functional domains of the Apc protein (UniProt.org). L2253I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC L2401P missense unknown APC L2401P does not lie within any known functional domains of the Apc protein (UniProt.org). L2401P has been identified in sequencing studies (PMID: 28539465), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC L508F missense unknown APC L508F lies within ARM repeat 2 of the Apc protein (UniProt.org). L508F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC N1118D missense unknown APC N1118D lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1118D has been identified in the scientific literature (PMID: 15122587, PMID: 29973652), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC N1142Y missense unknown APC N1142Y lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1142Y has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC N1819fs frameshift unknown APC N1819fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1819 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1819fs has been identified in the scientific literature (PMID: 28179481), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC N2593K missense unknown APC N2593K does not lie within any known functional domains of the Apc protein (UniProt.org). N2593K has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC P1076L missense unknown APC P1076L lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). P1076L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC P1420L missense unknown APC P1420L lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1420L has been identified in sequencing studies (PMID: 16906516, PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC P1432H missense unknown APC P1432H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1432H has been identified in sequencing studies (PMID: 17558858), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC P1453S missense unknown APC P1453S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1453S has been identified in sequencing studies (PMID: 16906516), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC P1613H missense unknown APC P1613H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1613H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC P1613S missense unknown APC P1613S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1613S has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC Q1096R missense unknown APC Q1096R lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). Q1096R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC Q1429R missense unknown APC Q1429R lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). Q1429R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC Q1916* nonsense unknown APC Q1916* results in a premature truncation of the Apc protein at amino acid 1916 of 2843 (UniProt.org). Q1916* has been identified in the scientific literature (PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC Q1930Nfs*40 frameshift unknown APC Q1930Nfs*40 indicates a shift in the reading frame starting at amino acid 1930 and terminating 40 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). Q1930Nfs*40 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC Q203E missense unknown APC Q203E lies within a coiled-coil domain of the Apc protein (UniProt.org). Q203E has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC Q2372* nonsense unknown APC Q2372* results in a premature truncation of the Apc protein at amino acid 2372 of 2843 (UniProt.org). Q2372* has been identified in sequencing studies (PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC R106C missense unknown APC R106C does not lie within any known functional domains of the Apc protein (UniProt.org). R106C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R1158K missense unknown APC R1158K lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). R1158K has been identified in sequencing studies (PMID: 27147599, PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC R1171H missense unknown APC R1171H lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). R1171H has been identified in sequencing studies (PMID: 1338691, PMID: 25886620), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R1399F missense unknown APC R1399F lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). R1399F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC R1835T missense unknown APC R1835T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). R1835T has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R2204* nonsense unknown APC R2204* results in a premature truncation of the Apc protein at amino acid 2204 of 2843 (UniProt.org). R2204* has been identified in sequencing studies (PMID: 26681737, PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC R2237* nonsense unknown APC R2237* results in a premature truncation of the Apc protein at amino acid 2237 of 2843 (UniProt.org). R2237* has been identified in the scientific literature (PMID: 31175091), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R230C missense unknown APC R230C lies within a coiled-coil domain of the Apc protein (UniProt.org). R230C has been identified in sequencing studies (PMID: 26343386, PMID: 27149842, PMID: 22185227), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R2525C missense unknown APC R2525C lies within a region of the APC protein necessary for interaction with DLG1 (UniProt.org). R2525C has been identified in sequencing studies (PMID: 33279946, PMID: 32770675), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC R2673G missense unknown APC R2673G lies within a region of the APC protein necessary for interaction with DLG1 (UniProt.org). R2673G has been identified in sequencing studies (PMID: 36896836, PMID: 38925616), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC R2714C missense unknown APC R2714C lies within a region of the Apc protein necessary for interaction with DLG1 and MAPRE1 (UniProt.org). R2714C has been identified in sequencing studies (PMID: 20579941, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R283Q missense unknown APC R283Q does not lie within any known functional domains of the Apc protein (Uniprot.org). R283Q has been identified in sequencing studies (PMID: 34160418, PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC R374W missense unknown APC R374W does not lie within any known functional domains of the Apc protein (UniProt.org). R374W has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC R653K missense unknown APC R653K lies within ARM repeat 5 of the Apc protein (UniProt.org). R653K has been identified in sequencing studies (PMID: 28179590, PMID: 18199528), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC R805Q missense unknown APC R805Q does not lie within any known functional domains of the Apc protein (UniProt.org). R805Q has been identified in sequencing studies (PMID: 31320401, PMID: 37841278, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC R876Q missense unknown APC R876Q does not lie within any known functional domains of the Apc protein (UniProt.org). R876Q has been identified in sequencing studies (PMID: 22895193, PMID: 29684080, PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC R99W missense unknown APC R99W does not lie within any known functional domains of the Apc protein (UniProt.org). R99W has been identified in sequencing studies (PMID: 34646395, PMID: 36013219, PMID: 38323278), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC S1355P missense unknown APC S1355P lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1355P has been identified in sequencing studies (PMID: 17558858, PMID: 29523763, PMID: 28222664), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC S1495I missense unknown APC S1495I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1495I has been identified in sequencing studies (PMID: 21807601, PMID: 27121310), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC S2270F missense unknown APC S2270F does not lie within any known functional domains of the Apc protein (UniProt.org). S2270F has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2026).
APC S2497L missense unknown APC S2497L lies within a region of the Apc protein necessary for interaction with DLG1 (UniProt.org). S2497L has been identified in sequencing studies (PMID: 24728327, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC S2685G missense unknown APC S2685G lies within a region of the Apc protein necessary for interaction with DLG1 and MAPRE1 (UniProt.org). S2685G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2025).
APC S590N missense unknown APC S590N lies within ARM repeat 3 of the Apc protein (UniProt.org). S590N has been identified in sequencing studies (PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC S940L missense unknown APC S940L does not lie within any known functional domains of the Apc protein (UniProt.org). S940L has been identified in sequencing studies (PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC T1160K missense unknown APC T1160K lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). T1160K has been identified in the scientific literature (PMID: 29212164), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC T1301S missense unknown APC T1301S lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). T1301S has been identified in sequencing studies (PMID: 8118796, PMID: 31795195), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC T518A missense unknown APC T518A lies within ARM repeat 2 of the Apc protein (UniProt.org). T518A has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC T683P missense unknown APC T683P lies within ARM repeat 5 of the Apc protein (UniProt.org). T683P has been identified in sequencing studies (PMID: 29990497, PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC V1452I missense unknown APC V1452I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1452I has been identified in sequencing studies (PMID: 27311873, PMID: 27147599, PMID: 36142267), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC V1472I missense unknown APC V1472I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1472I has been identified in sequencing studies (PMID: 10666372, PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC V1804D missense unknown APC V1804D lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1804D has been identified in sequencing studies (PMID: 25528188, PMID: 34221827), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Nov 2025).
APC V2112I missense unknown APC V2112I does not lie within any known functional domains of the Apc protein (UniProt.org). V2112I has been identified in sequencing studies (PMID: 29245953, PMID: 31501609), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC V2194fs frameshift unknown APC V2194fs results in a change in the amino acid sequence of the Apc protein beginning at aa 2194 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). V2194fs has been identified in the scientific literature (PMID: 32923851, PMID: 33969073), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2026).
APC W685R missense unknown APC W685R lies within ARM repeat 6 of the Apc protein (UniProt.org). W685R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
APC Y158H missense unknown APC Y158H lies within a coiled-coil domain of the Apc protein (UniProt.org). Y158H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Sep 2025).
ARID1A A1434V missense unknown ARID1A A1434V does not lie within any known functional domains of the Arid1a protein (UniProt.org). A1434V has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A A1522T missense unknown ARID1A A1522T does not lie within any known functional domains of the Arid1a protein (UniProt.org). A1522T has been identified in sequencing studies (PMID: 27284491), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A A1757S missense unknown ARID1A A1757S lies within the GR binding domain of the Arid1a protein (PMID: 23208470). A1757S has been identified in sequencing studies (PMID: 26288819, PMID: 27147599, PMID: 32026292), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A A2205T missense unknown ARID1A A2205T lies within the GR binding domain of the Arid1a protein (PMID: 23208470). A2205T has been identified in sequencing studies (PMID: 32520976), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A A345P missense unknown ARID1A A345P does not lie within any known functional domains of the Arid1a protein (UniProt.org). A345P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A C2163R missense unknown ARID1A C2163R lies within the GR binding domain of the Arid1a protein (PMID: 23208470). C2163R has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A D2086N missense unknown ARID1A D2086N lies within an LXXLL motif of the Arid1a protein (UniProt.org). D2086N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A D2157N missense unknown ARID1A D2157N lies within the GR binding domain of the Arid1a protein (PMID: 23208470). D2157N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A D734G missense unknown ARID1A D734G does not lie within any known functional domains of the Arid1a protein (UniProt.org). D734G has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A E1019Q missense unknown ARID1A E1019Q lies within the ARID domain of the Arid1a protein (UniProt.org). E1019Q has been identified in sequencing studies (PMID: 31751681), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A E1779G missense unknown ARID1A E1779G lies within the GR binding domain of the Arid1a protein (PMID: 23208470). E1779G has been identified in the scientific literature (PMID: 31745173, PMID: 27203738, PMID: 29136510), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A E2000Q missense unknown ARID1A E2000Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). E2000Q has been identified in sequencing studies (PMID: 26503331, PMID: 37591896), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A F2141Sfs*59 frameshift loss of function - predicted ARID1A F2141Sfs*59 indicates a shift in the reading frame starting at amino acid 2141 and terminating 59 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). F2141Sfs*59 results in decreased Arid1a protein expression and decreased binding with Baf subunits in culture (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function.
ARID1A G1317W missense unknown ARID1A G1317W does not lie within any known functional domains of the Arid1a protein (UniProt.org). G1317W has not been characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A G1729D missense unknown ARID1A G1729D lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1729D has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A G1848W missense unknown ARID1A G1848W lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1848W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A G1996D missense unknown ARID1A G1996D lies within the GR binding domain of the Arid1a protein (PMID: 23208470). G1996D has been identified in sequencing studies (PMID: 22980975, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A G2087E missense loss of function - predicted ARID1A G2087E lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087E results in a reduction in protein expression and scaffolding ability (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function.
ARID1A G2087K missense unknown ARID1A G2087K lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087K has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A G2087R missense loss of function - predicted ARID1A G2087R lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087R in the context of an Arid1a C-terminal domain construct demonstrates similar binding to Smarca4, Smarcc1 and Smarcd1 as compared to wild-type, but results in increased poly-ubiquitination and reduced protein stability (PMID: 30343899), and therefore, is predicted to lead to a loss of Arid1a protein function.
ARID1A G313E missense unknown ARID1A G313E does not lie within any known functional domains of the Arid1a protein (UniProt.org). G313E has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A G691D missense unknown ARID1A G691D does not lie within any known functional domains of the Arid1a protein (UniProt.org). G691D has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A H203Q missense unknown ARID1A H203Q does not lie within any known functional domains of the Arid1a protein (UniProt.org). H203Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A I2127M missense unknown ARID1A I2127M lies within the GR binding domain of the Arid1a protein (PMID: 23208470). I2127M has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A I2135_L2136del deletion unknown ARID1A I2135_L2136del results in the deletion of two amino acids of the Arid1a protein from amino acid 2135 to 2136 (UniProt.org). I2135_L2136del has been identified in sequencing studies (PMID: 22009941), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A K1862N missense unknown ARID1A K1862N lies within the GR binding domain of the Arid1a protein (PMID: 23208470). K1862N has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A K996N missense unknown ARID1A K996N does not lie within any known functional domains of the Arid1a protein (UniProt.org). K996N has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A L1713P missense unknown ARID1A L1713P lies within an LXXLL motif of the Arid1a protein (UniProt.org). L1713P has been identified in sequencing studies (PMID: 33096476), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A L2239P missense unknown ARID1A L2239P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). L2239P has been identified in sequencing studies (PMID: 32188081), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A M1224V missense unknown ARID1A M1224V does not lie within any known functional domains of the Arid1a protein (UniProt.org). M1224V has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A M918V missense unknown ARID1A M918V does not lie within any known functional domains of the Arid1a protein (UniProt.org). M918V has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A N1705S missense unknown ARID1A N1705S lies within the GR binding domain of the Arid1a protein (PMID: 23208470). N1705S has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A N1800Y missense unknown ARID1A N1800Y lies within the GR binding domain of the Arid1a protein (PMID: 23208470). N1800Y has been identified in sequencing studies (PMID: 30342036), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A N472S missense unknown ARID1A N472S does not lie within any known functional domains of the Arid1a protein (UniProt.org). N472S has been identified in the scientific literature (PMID: 36245225, PMID: 29078173), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A N983del deletion unknown ARID1A N983del results in the deletion of an amino acid of the Arid1a protein at amino acid 983 (UniProt.org). N983del has been identified in sequencing studies (PMID: 22009941), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A P1048S missense unknown ARID1A P1048S lies within the ARID domain of the Arid1a protein (UniProt.org). P1048S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P1144S missense unknown ARID1A P1144S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P1144S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P1326_Q1327del deletion unknown ARID1A P1326_Q1327del results in the deletion of two amino acids of the Arid1a protein from amino acids 1326 to 1327 (UniProt.org). P1326_Q1327del has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P158S missense unknown ARID1A P158S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P158S has been identified in sequencing studies (PMID: 24651015, PMID: 30761385, PMID: 28259476), but not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P1619L missense unknown ARID1A P1619L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P1619L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P2114L missense unknown ARID1A P2114L lies within the GR binding domain of the Arid1a protein (PMID: 23208470). P2114L has been identified in the scientific literature (PMID: 30318721), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P2114Q missense unknown ARID1A P2114Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). P2114Q has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P478del deletion unknown ARID1A P478del results in the deletion of an amino acid of the Arid1a protein at amino acid 478 (UniProt.org). P478del has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P531L missense unknown ARID1A P531L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P531L has been identified in the scientific literature (PMID: 22249247), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A P773S missense unknown ARID1A P773S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P773S has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P776L missense unknown ARID1A P776L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P776L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P776R missense unknown ARID1A P776R does not lie within any known functional domains of the Arid1a protein (UniProt.org). P776R has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P885L missense unknown ARID1A P885L does not lie within any known functional domains of the Arid1a protein (UniProt.org). P885L has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A P887S missense unknown ARID1A P887S does not lie within any known functional domains of the Arid1a protein (UniProt.org). P887S has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q1334del deletion unknown ARID1A Q1334del results in the deletion of one amino acid in the Arid1a protein at amino acid 1334 (UniProt.org). Q1334del has been identified in the scientific literature (PMID: 24265153, PMID: 34680390, PMID: 35739266), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A Q1519H missense unknown ARID1A Q1519H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q1519H has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q1856H missense unknown ARID1A Q1856H lies within the GR binding domain of the Arid1a protein (PMID: 23208470). Q1856H has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q492H missense unknown ARID1A Q492H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q492H has been identified in sequencing studies (PMID: 22941189, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q528L missense unknown ARID1A Q528L does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q528L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q561H missense unknown ARID1A Q561H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q561H has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q594R missense unknown ARID1A Q594R does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q594R has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q611H missense unknown ARID1A Q611H does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q611H has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Q840R missense unknown ARID1A Q840R does not lie within any known functional domains of the Arid1a protein (UniProt.org). Q840R has been identified in sequencing studies (PMID: 24382590), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R1046K missense unknown ARID1A R1046K lies within the ARID domain of the Arid1a protein (UniProt.org). R1046K has been identified in sequencing studies (PMID: 22634756, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R1223C missense unknown ARID1A R1223C does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223C has been identified in sequencing studies (PMID: 22810696, PMID: 28292439, PMID: 30675285), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A R1223H missense unknown ARID1A R1223H does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223H has been identified in sequencing studies (PMID: 26489445), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R1262H missense unknown ARID1A R1262H does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1262H has been identified in sequencing studies (PMID: 30181556, PMID: 36249907), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R1335L missense unknown ARID1A R1335L does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1335L has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R1658Q missense unknown ARID1A R1658Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1658Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R1721P missense unknown ARID1A R1721P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1721P has been identified in sequencing studies (PMID: 22653804, PMID: 23765252), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A R1906P missense unknown ARID1A R1906P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1906P has been identified in sequencing studies (PMID: 30412282, PMID: 38350451, PMID: 38981878), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A R1906Q missense unknown ARID1A R1906Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R1906Q has been identified in the scientific literature (PMID: 26744134, PMID: 35328145), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R2143C missense unknown ARID1A R2143C lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2143C has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A R2143H missense unknown ARID1A R2143H lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2143H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A R2158* nonsense loss of function - predicted ARID1A R2158* results in a premature truncation of the Arid1a protein at amino acid 2158 of 2285 (UniProt.org). R2158* results in decreased Arid1a protein expression and decreased binding with Baf subunits in culture (PMID: 34386776), and therefore, is predicted to lead to a loss of Arid1a protein function.
ARID1A R2158Q missense unknown ARID1A R2158Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2158Q has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A R2232W missense unknown ARID1A R2232W lies within the GR binding domain of the Arid1a protein (PMID: 23208470). R2232W has been identified in sequencing studies (PMID: 24382590, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S1000F missense unknown ARID1A S1000F does not lie any known functional domains of the Arid1a protein (UniProt.org). S1000F has been identified in sequencing studies (PMID: 25225064, PMID: 31202631), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S1000Y missense unknown ARID1A S1000Y does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1000Y has been identified in sequencing studies (PMID: 22895193, PMID: 38887977, PMID: 32022266), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A S1090I missense unknown ARID1A S1090I lies within the ARID domain of the Arid1a protein (UniProt.org). S1090I has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S1197C missense unknown ARID1A S1197C does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1197C has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S1197P missense unknown ARID1A S1197P does not lie within any known functional domains of the Arid1a protein (UniProt.org). S1197P has been identified in sequencing studies (PMID: 36921563, PMID: 34003798), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A S1707G missense unknown ARID1A S1707G lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S1707G has been identified in sequencing studies (PMID: 38471085, PMID: 35863823), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A S186_G187del deletion unknown ARID1A S186_G187del results in the deletion of two amino acids of the Arid1a protein from amino acids 186 to 187 (UniProt.org). S186_G187del has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S1992P missense unknown ARID1A S1992P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S1992P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ARID1A S2104F missense unknown ARID1A S2104F lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2104F has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S2104P missense unknown ARID1A S2104P lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2104P has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S2191_G2193del deletion unknown ARID1A S2191_G2193del results in the deletion of three amino acids of the Arid1a protein from amino acid 2191 to 2193 (UniProt.org). S2191_G2193del has been identified in sequencing studies (PMID: 22561517), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S2256* nonsense unknown ARID1A S2256* results in a premature truncation of the Arid1a protein at amino acid 2256 of 2285 (UniProt.org). S2256* has been identified in the scientific literature (PMID: 38833522), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S2269L missense unknown ARID1A S2269L lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2269L has been identified in sequencing studies (PMID: 24121792, PMID: 35069089), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S258C missense unknown ARID1A S258C does not lie within any known functional domains of the Arid1a protein (UniProt.org). S258C has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A S735N missense unknown ARID1A S735N does not lie within any known functional domains of the Arid1a protein (UniProt.org). S735N has been identified in the scientific literature (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A T1987S missense unknown ARID1A T1987S lies within the GR binding domain of the Arid1a protein (PMID: 23208470). T1987S has not been characterized in the scientific literature and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A T2063Nfs*36 frameshift loss of function - predicted ARID1A T2063Nfs*36 indicates a shift in the reading frame starting at amino acid 2063 and terminating 36 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). T2063Nfs*36 has not been characterized, however, due to the effects of other truncation mutations downstream of T2063 (PMID: 34386776), is predicted to lead to a loss of Arid1a protein function.
ARID1A V1817I missense unknown ARID1A V1817I lies within the GR binding domain of the Arid1a protein (PMID: 23208470). V1817I has been identified in sequencing studies (PMID: 29604063, PMID: 38895061, PMID: 33750258), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026).
ARID1A Y2254* nonsense loss of function - predicted ARID1A Y2254* results in a premature truncation of the Arid1a protein at amino acid 2254 of 2285 (UniProt.org). Y2254* results in the loss of interaction with Smarca4, Smarcc1 and Smarcd1 in cell culture (PMID: 30343899), and therefore, is predicted to lead to a loss of Arid1a protein function.
ARID1A Y2254fs frameshift unknown ARID1A Y2254fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 2254 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). Y2254fs has been identified in sequencing studies (PMID: 22653804, PMID: 30851247), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026).
ATM A1127V missense unknown ATM A1127V does not lie within any known functional domains of the Atm protein (UniProt.org). A1127V has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM A1309T missense unknown ATM A1309T does not lie within any known functional domains of the Atm protein (UniProt.org). A1309T has been identified in the scientific literature (PMID: 24886963, PMID: 31552911, PMID: 12697903), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM A1505V missense unknown ATM A1505V does not lie within any known functional domains of the Atm protein (UniProt.org). A1505V has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2025).
ATM A1812P missense unknown ATM A1812P does not lie within any known functional domains of the Atm protein (UniProt.org). A1812P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM A1950T missense unknown ATM A1950T lies within the FAT domain of the Atm protein (UniProt.org). A1950T has been identified in sequencing studies (PMID: 26960398, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM A2308T missense unknown ATM A2308T lies within the FAT domain of the Atm protein (UniProt.org). A2308T has been identified in sequencing studies (PMID: 24145436, PMID: 33007380), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2025).
ATM A2420G missense unknown ATM A2420G lies within the FAT domain of the Atm protein (UniProt.org). A2420G has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM A2524P missense loss of function - predicted ATM A2524P lies within the FAT domain of the Atm protein (UniProt.org). A2524P results in Atm expression similar to wild-type but decreased DNA damage-induced kinase activity in patient samples (PMID: 17166884), fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM A2622T missense unknown ATM A2622T does not lie within any known functional domains of the Atm protein (UniProt.org). A2622T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM A2843V missense unknown ATM A2843V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). A2843V has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM A3006T missense unknown ATM A3006T does not lie within any known functional domains of the Atm protein (UniProt.org). A3006T has been identified in sequencing studies (PMID: 27147599, PMID: 23415222, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM C430S missense unknown ATM C430S does not lie within any known functional domains of the Atm protein (UniProt.org). C430S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM C532Y missense unknown ATM C532Y does not lie within any known functional domains of the Atm protein (UniProt.org). C532Y has been identified in the scientific literature (PMID: 11756177, PMID: 28779002), but has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM C730Y missense unknown ATM C730Y does not lie within any known functional domains of the Atm protein (UniProt.org). C730Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM D126E missense unknown ATM D126E does not lie within any known functional domains of the Atm protein (UniProt.org). D126E has been identified in the scientific literature (PMID: 11443540, PMID: 16520463, PMID: 24793135), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D1285G missense unknown ATM D1285G does not lie within any known functional domains of the Atm protein (UniProt.org). D1285G has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM D1853N missense no effect - predicted ATM D1853N does not lie within any known functional domains of the Atm protein (Uniprot.org). D1853N demonstrates the ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to have no effect on Atm protein function.
ATM D1963N missense unknown ATM D1963N lies within the FAT domain of the Atm protein (UniProt.org). D1963N has been identified in the scientific literature (PMID: 24983367, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D2320N missense unknown ATM D2320N lies within the FAT domain of the Atm protein (UniProt.org). D2320N has been identified in sequencing studies (PMID: 26314984), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM D2395V missense unknown ATM D2395V lies within the FAT domain of the Atm protein (UniProt.org). D2395V has been identified in sequencing studies (PMID: 22952040, PMID: 38637689), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Apr 2026).
ATM D2448A missense loss of function - predicted ATM D2448A lies within the FAT domain of the Atm protein (UniProt.org). D2448A fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM D2448G missense loss of function - predicted ATM D2448G lies within the FAT domain of the Atm protein (UniProt.org). D2448G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM D2625_A2626delinsEP indel unknown ATM D2625_A2626delinsEP results in a deletion of two amino acids of the Atm protein from amino acids 2625 to 2626, combined with the insertion of a glutamic acid (E) and a proline (P) at the same site (UniProt.org). D2625_A2626delinsEP has been identified in the scientific literature (PMID: 31963394, PMID: 33436325), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM D2720H missense loss of function - predicted ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM D2720N missense unknown ATM D2720N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720N has been identified in sequencing studies (PMID: 27147599, PMID: 33054084), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM D2721N missense unknown ATM D2721N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721N has been identified in sequencing studies (PMID: 30836094, PMID: 38371338, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D2721Y missense unknown ATM D2721Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721Y has been identified in sequencing studies (PMID: 26675346, PMID: 10939806, PMID: 31537689), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D2725G missense unknown ATM D2725G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725G has been identified in the scientific literature (PMID: 29906251, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D2725V missense unknown ATM D2725V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725V has been identified in sequencing studies (PMID: 24825865, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D2870Y missense loss of function - predicted ATM D2870Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2870Y fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM D2913Y missense loss of function ATM D2913Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2913Y confers a loss of function to Atm as demonstrated by failure to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951) and decreased phosphorylation of Kap1 in culture (PMID: 40105422).
ATM D351Y missense unknown ATM D351Y does not lie within any known functional domains of the Atm protein (UniProt.org). D351Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM D639G missense unknown ATM D639G does not lie within any known functional domains of the Atm protein (UniProt.org). D639G is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM D983N missense unknown ATM D983N does not lie within any known functional domains of the Atm protein (UniProt.org). D983N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM E1959K missense unknown ATM E1959K lies within the FAT domain of the Atm protein (UniProt.org). E1959K has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM E2164G missense loss of function - predicted ATM E2164G lies within the FAT domain of the Atm protein (UniProt.org). E2164G fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM E2294G missense unknown ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM E2904K missense unknown ATM E2904K lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). E2904K has been identified in sequencing studies (PMID: 28667006, PMID: 29360550), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM E848Q missense unknown ATM E848Q does not lie within any known functional domains of the Atm protein (UniProt.org). E848Q has been identified in the scientific literature (PMID: 27602502), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM E871K missense unknown ATM E871K does not lie within any known functional domains of the Atm protein (UniProt.org). E871K has been identified in sequencing studies (PMID: 30239046, PMID: 28487787), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM F1683V missense unknown ATM F1683V does not lie within any known functional domains of the Atm protein (UniProt.org). F1683V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM F168L missense unknown ATM F168L does not lie within any known functional domains of the Atm protein (UniProt.org). F168L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM F2140V missense unknown ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM F2516C missense unknown ATM F2516C lies within the FAT domain of the Atm protein (UniProt.org). F2516C has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM F2839L missense loss of function - predicted ATM F2839L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2839L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM F570L missense unknown ATM F570L does not lie within any known functional domains of the Atm protein (UniProt.org). F570L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM F582L missense unknown ATM F582L does not lie within any known functional domains of the Atm protein (UniProt.org). F582L has been identified in the scientific literature (PMID: 14695997, PMID: 16574953, PMID: 25625042), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM F897I missense unknown ATM F897I does not lie within any known functional domains of the Atm protein (UniProt.org). F897I has been identified in sequencing studies (PMID: 28652578, PMID: 30181556, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM G1459R missense unknown ATM G1459R does not lie within any known functional domains of the Atm protein (UniProt.org). G1459R has been identified in sequencing studies (PMID: 26214590, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM G2023R missense unknown ATM G2023R lies within the FAT domain of the Atm protein (UniProt.org). G2023R has been identified in the scientific literature (PMID: 25625042, PMID: 38784039, PMID: 23091097), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM G2694R missense unknown ATM G2694R does not lie within any known functional domains of the Atm protein (UniProt.org). G2694R has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM G2695A missense unknown ATM G2695A does not lie within any known functional domains of the Atm protein (UniProt.org). G2695A has been identified in sequencing studies (PMID: 23407552, PMID: 29449575, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM G2695C missense loss of function - predicted ATM G2695C does not lie within any known functional domains of the Atm protein (UniProt.org). G2695C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM G2695S missense loss of function - predicted ATM G2695S does not lie within any known functional domains of the Atm protein (UniProt.org). G2695S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM G2891D missense loss of function ATM G2891D lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891D results in reduced Atm expression in patient samples and in cell culture and decreased kinase activity in patient samples, in cell culture, and in an in vitro assay (PMID: 22146522), and fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951).
ATM G2891R missense unknown ATM G2891R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891R has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM G514D missense unknown ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 24728327, PMID: 11443540, PMID: 12473594), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM H1436Y missense unknown ATM H1436Y does not lie within any known functional domains of the Atm protein (UniProt.org). H1436Y is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM H2038D missense unknown ATM H2038D lies within the FAT domain of the Atm protein (UniProt.org). H2038D has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM H2038R missense loss of function - predicted ATM H2038R lies within the FAT domain of the Atm protein (UniProt.org). H2038R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM H2872Q missense loss of function - predicted ATM H2872Q lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM H2872R missense loss of function - predicted ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM I124V missense unknown ATM I124V does not lie within any known functional domains of the Atm protein (UniProt.org). I124V has been identified in sequencing studies (PMID: 12673804, PMID: 28076423), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM I2888L missense unknown ATM I2888L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888L has been identified in sequencing studies (PMID: 26487540, PMID: 35704974, PMID: 30599207), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM I2888M missense unknown ATM I2888M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888M has been identified in sequencing studies (PMID: 32183364, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM I2888T missense unknown ATM I2888T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888T has been identified in the scientific literature (PMID: 12697903, PMID: 23091097, PMID: 33975862), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM I323V missense unknown ATM I323V does not lie within any known functional domains of the Atm protein (UniProt.org). I323V has been identified in sequencing studies (PMID: 24145436, PMID: 30107175), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM K1773N missense unknown ATM K1773N does not lie within any known functional domains of the Atm protein (UniProt.org). K1773N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025).
ATM K1964E missense unknown ATM K1964E lies within the FAT domain of the Atm protein (UniProt.org). K1964E has been identified in sequencing studies (PMID: 26675346, PMID: 39148954, PMID: 33436325), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM K3018Q missense unknown ATM K3018Q does not lie within any known functional domains of the Atm protein (UniProt.org). K3018Q has been identified in sequencing studies (PMID: 35585550), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM K3043R missense unknown ATM K3043R lies within the FATC domain of the Atm protein (UniProt.org). K3043R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM L100W missense loss of function - predicted ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L1046R missense unknown ATM L1046R does not lie within any known functional domains of the Atm protein (UniProt.org). L1046R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L1408F missense unknown ATM L1408F does not lie within any known functional domains of the Atm protein (UniProt.org). L1408F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L1408I missense unknown ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 29107334, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L1439I missense unknown ATM L1439I does not lie within any known functional domains of the Atm protein (UniProt.org). L1439I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L1675F missense unknown ATM L1675F does not lie within any known functional domains of the Atm protein (UniProt.org). L1675F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L1939V missense unknown ATM L1939V does not lie within any known functional domains of the Atm protein (UniProt.org). L1939V has been identified in sequencing studies (PMID: 20054297, PMID: 30814645), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM L2077I missense unknown ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696, PMID: 34954471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L2332P missense unknown ATM L2332P lies within the FAT domain of the Atm protein (UniProt.org). L2332P has been identified in the scientific literature (PMID: 25625042, PMID: 12673804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM L2492R missense loss of function - predicted ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L2561M missense unknown ATM L2561M lies within the FAT domain of the Atm protein (UniProt.org). L2561M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L259I missense unknown ATM L259I does not lie within any known functional domains of the Atm protein (UniProt.org). L259I is predicted to disrupt Atm stability by structural modeling (PMID: 41066315), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L2722M missense unknown ATM L2722M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2722M has been identified in sequencing studies (PMID: 27491810, PMID: 25326804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L2780R missense loss of function - predicted ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L2877F missense unknown ATM L2877F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2877F has been identified in the scientific literature (PMID: 27206246, PMID: 32680567), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM L2890I missense loss of function - predicted ATM L2890I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L2890P missense loss of function - predicted ATM L2890P lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L2890R missense loss of function - predicted ATM L2890R lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). L2890R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM L2995I missense unknown ATM L2995I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2995I has been identified in sequencing studies (PMID: 27997549, PMID: 27363283), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM L348_M349insYIV insertion unknown ATM L348_M349insYIV results in the insertion of three amino acids in the Atm protein between amino acids 348 and 349 (UniProt.org). L348_M349insYIV has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM L694R missense unknown ATM L694R does not lie within any known functional domains of the Atm protein (UniProt.org). L694R has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM L822V missense unknown ATM L822V does not lie within any known functional domains of the Atm protein (UniProt.org). L822V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L942I missense unknown ATM L942I does not lie within any known functional domains of the Atm protein (UniProt.org). L942I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM L991S missense unknown ATM L991S does not lie within any known functional domains of the Atm protein (UniProt.org). L991S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM M2405L missense unknown ATM M2405L lies within the FAT domain of the Atm protein (UniProt.org). M2405L has been identified in sequencing studies (PMID: 22952040, PMID: 32268276), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM M2531T missense unknown ATM M2531T lies within the FAT domain of the Atm protein (UniProt.org). M2531T has been identified in sequencing studies (PMID: 27978560, PMID: 19781682, PMID: 36577833), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM M349K missense unknown ATM M349K does not lie within any known functional domains of the Atm protein (UniProt.org). M349K has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM M779I missense unknown ATM M779I does not lie within any known functional domains of the Atm protein (UniProt.org). M779I has been identified in the scientific literature (PMID: 38416404), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM N1356D missense unknown ATM N1356D does not lie within any known functional domains of the Atm protein (UniProt.org). N1356D has been identified in sequencing studies (PMID: 19781682, PMID: 30181556, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM N2603S missense unknown ATM N2603S does not lie within any known functional domains of the Atm protein (UniProt.org). N2603S has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025).
ATM N2875H missense unknown ATM N2875H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875H has been identified in the scientific literature (PMID: 26510020), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM N2875S missense unknown ATM N2875S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875S has been identified in the scientific literature (PMID: 25232094, PMID: 30730459), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM N2875T missense loss of function - predicted ATM N2875T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875T fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM N358I missense unknown ATM N358I does not lie within any known functional domains of the Atm protein (UniProt.org). N358I is associated with a reduction in Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM N796H missense unknown ATM N796H does not lie within any known functional domains of the Atm protein (UniProt.org). N796H is associated with a reduction in Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM N914S missense unknown ATM N914S does not lie within any known functional domains of the Atm protein (UniProt.org). N914S has been identified in sequencing studies (PMID: 29107334, PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM P1235L missense unknown ATM P1235L does not lie within any known functional domains of the Atm protein (UniProt.org). P1235L is associated with retention of Atm expression in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2025).
ATM P178S missense unknown ATM P178S does not lie within any known functional domains of the Atm protein (UniProt.org). P178S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2025).
ATM P2353H missense unknown ATM P2353H lies within the FAT domain of the Atm protein (UniProt.org). P2353H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM P2353T missense unknown ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM P2665T missense unknown ATM P2665T does not lie within any known functional domains of the Atm protein (UniProt.org). P2665T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM P2842L missense loss of function - predicted ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM P631S missense unknown ATM P631S does not lie within any known functional domains of the Atm protein (UniProt.org). P631S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM P80S missense unknown ATM P80S does not lie within any known functional domains of the Atm protein (UniProt.org). P80S has been identified in sequencing studies (PMID: 38136308), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2025).
ATM Q1128R missense unknown ATM Q1128R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1128R has been identified in the scientific literature (PMID: 35031544, PMID: 35078817, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM Q1361R missense unknown ATM Q1361R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1631R has been identified in sequencing studies (PMID: 36898365, PMID: 39324485), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM Q1537R missense unknown ATM Q1537R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1537R has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM Q1919P missense unknown ATM Q1919P does not lie within any known functional domains of the Atm protein (UniProt.org). Q1919P has been identified in the scientific literature (PMID: 34911817, PMID: 27922010), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2025).
ATM Q2066L missense loss of function - predicted ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM Q2442P missense unknown ATM Q2442P lies within the FAT domain of the Atm protein (UniProt.org). Q2442P has been identified in sequencing studies (PMID: 26316624, PMID: 22634756, PMID: 28247034), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM Q2729H missense unknown ATM Q2729H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2729H has been identified in the scientific literature (PMID: 32183364, PMID: 35626161, PMID: 40404986), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2026).
ATM Q2730E missense unknown ATM Q2730E lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730E has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM Q2730R missense loss of function - predicted ATM Q2730R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730R fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM Q2762R missense unknown ATM Q2762R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2762R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM Q2809P missense unknown ATM Q2809P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2809P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2025).
ATM Q3038* nonsense loss of function - predicted ATM Q3038* results in a premature truncation of the Atm protein at amino acid 3038 of 3056 (UniProt.org). Q3038* fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R1150I missense unknown ATM R1150I does not lie within any known functional domains of the Atm protein (UniProt.org). R1150I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R1466P missense loss of function - predicted ATM R1466P does not lie within any known functional domains of the Atm protein (UniProt.org). R1466P fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R1466Q missense unknown ATM R1466Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1466Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R1730Q missense unknown ATM R1730Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1730Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R1918T missense unknown ATM R1918T does not lie within any known functional domains of the Atm protein (UniProt.org). R1918T has been identified in sequencing studies (PMID: 28779002, PMID: 33359728), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R221I missense unknown ATM R221I does not lie within any known functional domains of the Atm protein (UniProt.org). R221I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R23Q missense unknown ATM R23Q does not lie within any known functional domains of the Atm protein (UniProt.org). R23Q has been identified in sequencing studies (PMID: 26214590, PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R2443P missense unknown ATM R2443P lies within the FAT domain of the Atm protein (UniProt.org). R2443P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R2443Q missense unknown ATM R2443Q lies within the FAT domain of the Atm protein (UniProt.org). R2443Q has been identified in sequencing studies (PMID: 27693639, PMID: 27175599, PMID: 36931573), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R248Q missense loss of function - predicted ATM R248Q does not lie within any known functional domains of the Atm protein (UniProt.org). R248Q fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2526S missense loss of function - predicted ATM R2526S lies within the FAT domain of the Atm protein (UniProt.org). R2526S fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2598Q missense unknown ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R2691C missense loss of function - predicted ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and via structural modeling, demonstrates potential for impaired kinase activity of Atm (PMID: 21993670), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2832S missense unknown ATM R2832S lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). R2832S has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R2854C missense loss of function - predicted ATM R2854C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2854C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM R2912G missense unknown ATM R2912G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2912G is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 17166884) and decreased Chk1 phosphorylation compared to wild-type Atm in patient samples (PMID: 17166884), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2025).
ATM R3008L missense unknown ATM R3008L does not lie within any known functional domains of the Atm protein (UniProt.org). R3008L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R337C missense unknown ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 30181556, PMID: 29335443, PMID: 27334835), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R337H missense unknown ATM R337H does not lie within any known functional domains of the Atm protein (UniProt.org). R337H has been identified in the scientific literature (PMID: 28480077, PMID: 30181556, PMID: 27749841), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM R832C missense unknown ATM R832C does not lie within any known functional domains of the Atm protein (UniProt.org). R832C has been identified in the scientific literature (PMID: 33181636), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S1135_K1192del deletion unknown ATM S1135_K1192del results in the deletion of 58 amino acids of the Atm protein from amino acids 1135 to 1192 (UniProt.org). S1135_K1192del is associated with loss of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 32748564), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S2017T missense unknown ATM S2017T lies within the FAT domain of the Atm protein (UniProt.org). S2017T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM S2489F missense loss of function - predicted ATM S2489F lies within the FAT domain of the Atm protein (UniProt.org). S2489F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM S2812Y missense unknown ATM S2812Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2812Y has been identified in sequencing studies (PMID: 27304073), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S2859F missense unknown ATM S2859F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2859F has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S2860del deletion unknown ATM S2860del results in the deletion of an amino acid in the PI3K/PI4K domain of the Atm protein at amino acid 2860 (UniProt.org). S2860del has been identified in the scientific literature (PMID: 8845835, PMID: 33127389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S3001N missense unknown ATM S3001N does not lie within any known functional domains of the Atm protein (UniProt.org). S3001N has been identified in sequencing studies (PMID: 34646395), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S3027I missense unknown ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has been identified in the scientific literature (PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S333F missense loss of function - predicted ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F complements survival in response to DNA damage in culture but results in reduced phosphorylation of Atm target proteins Chk2 and H2ax and decreased HDR activity in cultured cells (PMID: 35354106), and therefore, is predicted to lead to a loss of Atm protein function.
ATM S707P missense unknown ATM S707P does not lie within any known functional domains of the Atm protein (UniProt.org). S707P has been associated with a modest increased risk of breast cancer (PMID: 20826828), and results in decreased Atm protein expression in cultured cells (PMID: 31664505), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
ATM S978A missense unknown ATM S978A does not lie within any known functional domains of the Atm protein (UniProt.org). S978A is predicted to lose its interaction with the Asp741 residue of Nbs1 based on structural modeling (PMID: 35076389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S978C missense unknown ATM S978C does not lie within any known functional domains of the Atm protein (UniProt.org). S978C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S978P missense unknown ATM S978P does not lie within any known functional domains of the Atm protein (UniProt.org). S978P is predicted to disrupt the Nbs-1 binding site based on protein structure (PMID: 35076389), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM S99G missense unknown ATM S99G does not lie within any known functional domains of the Atm protein (UniProt.org). S99G has been identified in sequencing studies (PMID: 19781682, PMID: 36525262), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T1350M missense unknown ATM T1350M does not lie within any known functional domains of the Atm protein (UniProt.org). T1350M has been identified in sequencing studies (PMID: 30181556, PMID: 28119368), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T1756I missense unknown ATM T1756I does not lie within any known functional domains of the Atm protein (UniProt.org). T1756I has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T1880R missense unknown ATM T1880R does not lie within any known functional domains of the Atm protein (UniProt.org). T1880R has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T2396S missense unknown ATM T2396S lies within the FAT domain of the Atm protein (UniProt.org). T2396S has been identified in the scientific literature (PMID: 19404735, PMID: 29036293, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T2743M missense unknown ATM T2743M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2743M has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T2934I missense loss of function - predicted ATM T2934I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2934I fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM T593del deletion unknown ATM T593del results in the deletion of an amino acid of the Atm protein at amino acid 593 (UniProt.org). T593del has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM T86I missense unknown ATM T86I does not lie within any known functional domains of the Atm protein (UniProt.org). T86I has been identified in sequencing studies (PMID: 31206626), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2026).
ATM V1570A missense unknown ATM V1570A does not lie within any known functional domains of the Atm protein (UniProt.org). V1570A is associated with retention of Atm expression in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown.
ATM V1671D missense unknown ATM V1671D does not lie within any known functional domains of the Atm protein (UniProt.org). V1671D has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM V2439A missense unknown ATM V2439A lies within the FAT domain of the Atm protein (UniProt.org). V2439A has been identified in sequencing studies (PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025).
ATM V2727A missense unknown ATM V2727A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2727A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM V2731G missense unknown ATM V2731G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2731G has been identified in the scientific literature (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM V2873I missense unknown ATM V2873I lies within the PI3K/PI4K catalytic domain of the Atm protein (UniProt.org). V2873I is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown.
ATM V2951F missense loss of function - predicted ATM V2951F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2951F fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM V410A missense unknown ATM V410A does not lie within any known functional domains of the Atm protein (UniProt.org). V410A has been identified in the scientific literature (PMID: 29906251, PMID: 25148578, PMID: 14695997), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM V60F missense unknown ATM V60F does not lie within any known functional domains of the Atm protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2026).
ATM V630M missense unknown ATM V630M does not lie within any known functional domains of the Atm protein (UniProt.org). V630M has been identified in sequencing studies (PMID: 27468087), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM W2845C missense loss of function - predicted ATM W2845C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). W2845C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM W3052C missense loss of function - predicted ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C fails to rescue survival and proliferation of ATM-haploid cells upon olaparib treatment in a high-throughput cell culture assay (PMID: 40580951), and therefore, is predicted to lead to a loss of Atm protein function.
ATM Y1124F missense unknown ATM Y1124F does not lie within any known functional domains of the Atm protein (UniProt.org). Y1124F has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM Y2398C missense unknown ATM Y2398C lies within the FAT domain of the Atm protein (UniProt.org). Y2398C has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM Y2437C missense unknown ATM Y2437C lies within the FAT domain of the Atm protein (UniProt.org). Y2437C has been identified in sequencing studies (PMID: 10939806, PMID: 31552911), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM Y2437S missense unknown ATM Y2437S lies within the FAT domain of the Atm protein (UniProt.org). Y2437S has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATM Y2755C missense unknown ATM Y2755C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2755C has been identified in sequencing studies (PMID: 24549055, PMID: 39284955, PMID: 41100773), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, May 2026).
ATM Y2954C missense unknown ATM Y2954C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2954C has been identified in sequencing studies (PMID: 22634756, PMID: 23415222, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Dec 2025).
ATR A1896D missense unknown ATR A1896D lies within the FAT domain of the Atr protein (UniProt.org). A1896D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR A1896T missense unknown ATR A1896T lies within the FAT domain of the Atr protein (UniProt.org). A1896T has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR A1934D missense unknown ATR A1934D lies within the FAT domain of the Atr protein (UniProt.org). A1934D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR A2002G missense unknown ATR A2002G lies within the FAT domain of the Atr protein (UniProt.org). A2002G has been identified in sequencing studies (PMID: 29681454, PMID: 17344846, PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR A2165V missense unknown ATR A2165V lies within the FAT domain of the Atr protein (UniProt.org). A2165V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR A615S missense unknown ATR A615S does not lie within any known functional domains of the Atr protein (UniProt.org). A615S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR D1380Y missense unknown ATR D1380Y does not lie within any known functional domains of the Atr protein (UniProt.org). D1380Y has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR D1470N missense unknown ATR D1470N does not lie within any known functional domains of the Atr protein (UniProt.org). D1470N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR D155E missense unknown ATR D155E does not lie within any known functional domains of the Atr protein (UniProt.org). D155E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR D1560N missense unknown ATR D1560N does not lie within any known functional domains of the Atr protein (UniProt.org). D1560N has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR D2118N missense unknown ATR D2118N lies within the FAT domain of the Atr protein (UniProt.org). D2118N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR D2331Y missense unknown ATR D2331Y lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). D2331Y has been identified in the scientific literature (PMID: 30957057, PMID: 29530932), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR D983N missense unknown ATR D983N does not lie within any known functional domains of the Atr protein (UniProt.org). D983N has been identified in sequencing studies (PMID: 27149842, PMID: 25344691, PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E1375G missense unknown ATR E1375G does not lie within any known functional domains of the Atr protein (UniProt.org). E1375G has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E1602D missense unknown ATR E1602D does not lie within any known functional domains of the Atr protein (UniProt.org). E1602D has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E2011K missense unknown ATR E2011K lies within the FAT domain of the Atr protein (UniProt.org). E2011K has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E2103A missense unknown ATR E2103A lies within the FAT domain of the Atr protein (UniProt.org). E2103A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E2378V missense unknown ATR E2378V lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). E2378V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E254G missense unknown ATR E254G does not lie within any known functional domains of the Atr protein (UniProt.org). E254G has been identified in the scientific literature (PMID: 15987455), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR E2626* nonsense unknown ATR E2626* results in a premature truncation of the Atr protein at amino acid 2626 of 2644 (UniProt.org). E2626* has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR F732L missense unknown ATR F732L does not lie within any known functional domains of the Atr protein (UniProt.org). F732L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR G1181C missense unknown ATR G1181C does not lie within any known functional domains of the Atr protein (UniProt.org). G1181C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR G1181F missense unknown ATR G1181F does not lie within any known functional domains of the Atr protein (UniProt.org). G1181F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR G1181S missense unknown ATR G1181S does not lie within any known functional domains of the Atr protein (UniProt.org). G1181S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR G1181V missense unknown ATR G1181V does not lie within any known functional domains of the Atr protein (UniProt.org). G1181V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR G2530C missense unknown ATR G2530C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). G2530C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR H2153R missense unknown ATR H2153R lies within the FAT domain of the Atr protein (UniProt.org). H2153R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR H2203N missense unknown ATR H2203N does not lie within any known functional domains of the Atr protein (UniProt.org). H2203N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR H4R missense unknown ATR H4R does not lie within any known functional domains of the Atr protein (UniProt.org). H4R has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR H90Y missense unknown ATR H90Y does not lie within any known functional domains of the Atr protein (UniProt.org). H90Y has been identified in sequencing studies (PMID: 29793804, PMID: 25528188, PMID: 38697030), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Feb 2026).
ATR I1526V missense unknown ATR I1526V does not lie within any known functional domains of the Atr protein (UniProt.org). I1526V has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR I1831S missense unknown ATR I1831S lies within the FAT domain of the Atr protein (UniProt.org). I1831S has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR I1851V missense unknown ATR I1851V lies within the FAT domain of the Atr protein (UniProt.org). I1851V has been identified in sequencing studies (PMID: 24755471, PMID: 31513681), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR I219V missense unknown ATR I219V does not lie within any known functional domains of the Atr protein (UniProt.org). I219V has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR I493M missense unknown ATR I493M does not lie within any known functional domains of the Atr protein (UniProt.org). I493M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR K2221E missense unknown ATR K2221E does not lie within any known functional domains of the Atr protein (UniProt.org). K2221E has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR K2310N missense unknown ATR K2310N does not lie within any known functional domains of the Atr protein (UniProt.org). K2310N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR K297N missense unknown ATR K297N does not lie within any known functional domains of the Atr protein (UniProt.org). K297N has been identified in sequencing studies (PMID: 25528188, PMID: 31874108, PMID: 15987455), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR K764E missense unknown ATR K764E does not lie within any known functional domains of the Atr protein (UniProt.org). K764E has been identified in sequencing studies (PMID: 28522871, PMID: 31591497, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L1361V missense unknown ATR L1361V lies within HEAT repeat 2 of the Atr protein (UniProt.org). L1361V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L1397M missense unknown ATR L1397M does not lie within any known functional domains of the Atr protein (UniProt.org). L1397M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L1707I missense unknown ATR L1707I lies within the FAT domain of the Atr protein (UniProt.org). L1707I has been identified in sequencing studies (PMID: 30836094, PMID: 35645245), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L1746I missense unknown ATR L1746I lies within the FAT domain of the Atr protein (UniProt.org). L1746I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR L1834F missense unknown ATR L1834F lies within the FAT domain of the Atr protein (UniProt.org). L1834F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L2076V missense unknown ATR L2076V lies within the FAT domain of the Atr protein (UniProt.org). L2076V has been identified in sequencing studies (PMID: 27997549), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L2306F missense unknown ATR L2306F does not lie within any known functional domains of the Atr protein (UniProt.org). L2306F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L2593I missense unknown ATR L2593I does not lie within any known functional domains of the Atr protein (UniProt.org). L2593I has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR L298R missense unknown ATR L298R does not lie within any known functional domains of the Atr protein (UniProt.org). L298R has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR M1162I missense unknown ATR M1162I does not lie within any known functional domains of the Atr protein (UniProt.org). M1162I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR M211I missense unknown ATR M211I does not lie within any known functional domains of the Atr protein (UniProt.org). M211I has been identified in sequencing studies (PMID: 31173267), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR M211T missense unknown ATR M211T does not lie within any known functional domains of the Atr protein (UniProt.org). M211T is a common Atr polymorphism (PMID: 32597209, PMID: 40050371, PMID: 28238063), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR M328V missense unknown ATR M328V does not lie within any known functional domains of the Atr protein (UniProt.org). M328V has been identified in sequencing studies (PMID: 27248819), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR M335I missense unknown ATR M335I does not lie within any known functional domains of the Atr protein (UniProt.org). M335I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR P1530Q missense unknown ATR P1530Q does not lie within any known functional domains of the Atr protein (UniProt.org). P1530Q has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR Q1732L missense unknown ATR Q1732L lies within the FAT domain of the Atr protein (UniProt.org). Q1732L has been identified in sequencing studies (PMID: 32982275), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR Q2635H missense unknown ATR Q2635H lies within the FATC domain of the Atr protein (UniProt.org). Q2635H has been identified in sequencing studies (PMID: 27502118), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR R1015Q missense unknown ATR R1015Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1015Q has been identified in sequencing studies (PMID: 30239046, PMID: 30200630, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R1025C missense unknown ATR R1025C does not lie within any known functional domains of the Atr protein (UniProt.org). R1025C has been identified in sequencing studies (PMID: 22622578, PMID: 26950094), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Mar 2026).
ATR R109L missense unknown ATR R109L does not lie within any known functional domains of the Atr protein (UniProt.org). R109L has been identified in sequencing studies (PMID: 34839264), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R109W missense unknown ATR R109W does not lie within any known functional domains of the Atr protein (UniProt.org). R109W has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R1183Q missense unknown ATR R1183Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1183Q has been identified in sequencing studies (PMID: 29420467, PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R1201C missense unknown ATR R1201C does not lie within any known functional domains of the Atr protein (UniProt.org). R1201C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R1412Q missense unknown ATR R1412Q does not lie within any known functional domains of the Atr protein (UniProt.org). R1412Q has been identified in sequencing studies (PMID: 30181556, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R1647C missense unknown ATR R1647C lies within the FAT domain of the Atr protein (UniProt.org). R1647C has been identified in sequencing studies (PMID: 32321774), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R1724M missense unknown ATR R1724M lies within the FAT domain of the Atr protein (UniProt.org). R1724M has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R177Q missense unknown ATR R177Q does not lie within any known functional domains of the Atr protein (UniProt.org). R177Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R1886Q missense unknown ATR R1886Q lies within the FAT domain of the Atr protein (UniProt.org). R1886Q has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R2356C missense unknown ATR R2356C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2356C has been identified in sequencing studies (PMID: 30239046, PMID: 25159915), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R2407C missense unknown ATR R2407C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407C has been identified in sequencing studies (PMID: 28292439, PMID: 32300177), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R2407H missense unknown ATR R2407H lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2407H has been identified in sequencing studies (PMID: 26845104, PMID: 24192927), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R2425Q missense unknown ATR R2425Q lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2425Q has been identified in the scientific literature (PMID: 31748433, PMID: 27693639, PMID: 33685866), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R2514C missense unknown ATR R2514C lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). R2514C has been identified in sequencing studies (PMID: 30239046, PMID: 26950094, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR R515H missense unknown ATR R515H does not lie within any known functional domains of the Atr protein (UniProt.org). R515H has been identified in sequencing studies (PMID: 30181556, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, May 2026).
ATR R968I missense unknown ATR R968I does not lie within any known functional domains of the Atr protein (UniProt.org). R968I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR S1142G missense unknown ATR S1142G does not lie within any known functional domains of the Atr protein (UniProt.org). S1142G has been identified in the scientific literature (PMID: 15987455, PMID: 33257393), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR S1325C missense unknown ATR S1325C does not lie within any known functional domains of the Atr protein (UniProt.org). S1325C has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR S1325N missense unknown ATR S1325N does not lie within any known functional domains of the Atr protein (UniProt.org). S1325N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR S1645F missense unknown ATR S1645F lies within the FAT domain of the Atr protein (UniProt.org). S1645F has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR S601F missense loss of function ATR S601F does not lie within any known functional domains of the Atr protein (UniProt.org). S601F confers a loss of function to the Atr protein as demonstrated by decreased Chk1 phosphorylation and cell cycle arrest in response to UVB irradiation in cultured cells (PMID: 28273450).
ATR S684Y missense unknown ATR S684Y does not lie within any known functional domains of the Atr protein (UniProt.org). S684Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR S902Y missense unknown ATR S902Y does not lie within any known functional domains of the Atr protein (UniProt.org). S902Y has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR T1401A missense unknown ATR T1401A does not lie within any known functional domains of the Atr protein (UniProt.org). T1401A has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR T2516I missense unknown ATR T2516I lies within the PI3K/PI4K domain of the Atr protein (UniProt.org). T2516I has been identified in sequencing studies (PMID: 25759019), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR T2580N missense unknown ATR T2580N does not lie within any known functional domains of the Atr protein (UniProt.org). T2580N has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR T541I missense unknown ATR T541I does not lie within any known functional domains of the Atr protein (UniProt.org). T541I has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR V316I missense unknown ATR V316I does not lie within any known functional domains of the Atr protein (UniProt.org). V316I has been identified in the scientific literature (PMID: 25589003, PMID: 29895955, PMID: 40050371), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR V915A missense unknown ATR V915A does not lie within any known functional domains of the Atr protein (UniProt.org). V915A has not been characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR V959M missense unknown ATR V959M does not lie within any known functional domains of the Atr protein (UniProt.org). V959M has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR W1591L missense unknown ATR W1591L does not lie within any known functional domains of the Atr protein (UniProt.org). W1591L has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR W2035C missense unknown ATR W2035C lies within the FAT domain of the Atr protein (UniProt.org). W2035C has not been characterized in the scientific literature and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR Y2132D missense unknown ATR Y2132D lies within the FAT domain of the Atr protein (UniProt.org). Y2132D has been identified in sequencing studies (PMID: 17344846, PMID: 25589003, PMID: 31874108), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Apr 2026).
ATR Y2637C missense unknown ATR Y2637C lies within the FATC domain of the Atr protein (UniProt.org). Y2637C has been identified in sequencing studies (PMID: 29884412, PMID: 25275298, PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Atr protein function is unknown (PubMed, Dec 2025).
ATRX A1690D missense unknown ATRX A1690D lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). A1690D has been identified in sequencing studies (PMID: 22416102, PMID: 25487495), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX A507D missense unknown ATRX A507D does not lie within any known functional domains of the Atrx protein (UniProt.org). A507D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX C1590Y missense unknown ATRX C1590Y lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). C1590Y has been identified in sequencing studies (PMID: 40887493), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Dec 2025).
ATRX C220W missense unknown ATRX C220W lies within the ADD domain of the Atrx protein (UniProt.org). C220W has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1058Y missense unknown ATRX D1058Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D1058Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1222N missense unknown ATRX D1222N lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1222N has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1247H missense unknown ATRX D1247H lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1247H has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1263E missense unknown ATRX D1263E lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1263E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1383A missense unknown ATRX D1383A does not lie within any known functional domains of the Atrx protein (UniProt.org). D1383A has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1487N missense unknown ATRX D1487N does not lie within any known functional domains of the Atrx protein (UniProt.org). D1487N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1615G missense unknown ATRX D1615G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). D1615G has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D163Y missense unknown ATRX D163Y lies within the ADD domain of the Atrx protein (UniProt.org). D163Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D1719G missense unknown ATRX D1719G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). D1719G has been identified in sequencing studies (PMID: 24148618), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D2004Y missense unknown ATRX D2004Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2004Y has been identified in sequencing studies (PMID: 25344691, PMID: 29793804, PMID: 30237525), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D2136N missense unknown ATRX D2136N lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). D2136N has been identified in sequencing studies (PMID: 12673795, PMID: 22886134, PMID: 35323929), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX D2326Y missense unknown ATRX D2326Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2326Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D2352Y missense unknown ATRX D2352Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2352Y has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX D547N missense unknown ATRX D547N does not lie within any known functional domains of the Atrx protein (UniProt.org). D547N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX E1365A missense unknown ATRX E1365A does not lie within any known functional domains of the Atrx protein (UniProt.org). E1365A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX E1463K missense unknown ATRX E1463K does not lie within any known functional domains of the Atrx protein (UniProt.org). E1463K has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX E1547G missense unknown ATRX E1547G does not lie within any known functional domains of the Atrx protein (UniProt.org). E1547G has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX E1757Q missense unknown ATRX E1757Q lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). E1757Q has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX E2172A missense unknown ATRX E2172A lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). E2172A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Apr 2026).
ATRX E2172G missense unknown ATRX E2172G lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). E2172G has been identified in sequencing studies (PMID: 22869205), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX E2246K missense unknown ATRX E2246K lies within the MECP2-interacting region of the Atrx protein (UniProt.org). E2246K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX E607K missense unknown ATRX E607K does not lie within any known functional domains of the Atrx protein (UniProt.org). E607K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2026).
ATRX E853D missense unknown ATRX E853D does not lie within any known functional domains of the Atrx protein (UniProt.org). E853D has been identified in sequencing studies (PMID: 31470906), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX F1384L missense unknown ATRX F1384L does not lie within any known functional domains of the Atrx protein (UniProt.org). F1384L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX F1570C missense unknown ATRX F1570C does not lie within any known functional domains of the Atrx protein (UniProt.org). F1570C has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX F2102C missense unknown ATRX F2102C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). F2102C has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX F2113Lfs*10 frameshift unknown ATRX F2113Lfs*10 indicates a shift in the reading frame starting at amino acid 2113 and terminating 10 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). F2113Lfs*10 has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX F2113Sfs*9 frameshift unknown ATRX F2113Sfs*9 indicates a shift in the reading frame starting at amino acid 2113 and terminating 9 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). F2113Sfs*9 has been identified in the scientific literature (PMID: 21252315, PMID: 39707189, PMID: 37713468), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Nov 2025).
ATRX F2199V missense unknown ATRX F2199V lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). F2199V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Apr 2026).
ATRX G1071R missense unknown ATRX G1071R does not lie within any known functional domains of the Atrx protein (UniProt.org). G1071R has been identified in the scientific literature (PMID: 30709382, PMID: 30404791, PMID: 27150160), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX G1567D missense unknown ATRX G1567D does not lie within any known functional domains of the Atrx protein (UniProt.org). G1567D has been identified in the in the scientific literature (PMID: 32904945), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX G1589E missense unknown ATRX G1589E lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). G1589E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX G2110* nonsense unknown ATRX G2110* results in a premature truncation of the Atrx protein at amino acid 2110 of 2492 (UniProt.org). G2110* has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX G2120E missense unknown ATRX G2120E lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). G2120E has been identified in sequencing studies (PMID: 28069802, PMID: 29990500), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX G2169E missense unknown ATRX G2169E lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). G2169E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX H2260N missense unknown ATRX H2260N lies within the MECP2-interacting region of the Atrx protein (UniProt.org). H2260N has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX H406D missense unknown ATRX H406D does not lie within any known functional domains of the Atrx protein (UniProt.org). H406D has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX H865Q missense unknown ATRX H865Q does not lie within any known functional domains of the Atrx protein (UniProt.org). H865Q has been identified in sequencing studies (PMID: 30668521, PMID: 25589003, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX I1784S missense unknown ATRX I1784S does not lie within any known functional domains of the Atrx protein (UniProt.org). I1784S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX I2026T missense unknown ATRX I2026T lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). I2026T has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX I2133M missense unknown ATRX I2133M lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). I2133M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX I402N missense unknown ATRX I402N does not lie within any known functional domains of the Atrx protein (UniProt.org). I402N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX I528M missense unknown ATRX I528M does not lie within any known functional domains of the Atrx protein (UniProt.org). I528M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX K1300R missense unknown ATRX K1300R lies within the DAXX-interacting region of the Atrx protein (UniProt.org). K1300R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX K1420T missense unknown ATRX K1420T does not lie within any known functional domains of the Atrx protein (UniProt.org). K1420T has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX K1600N missense unknown ATRX K1600N lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). K1600N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX K2019E missense unknown ATRX K2019E lies within the MECP2-interacting region of the Atrx protein (UniProt.org). K2019E has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX K2182R missense unknown ATRX K2182R lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). K2182R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX K2272R missense unknown ATRX K2272R lies within the MECP2-interacting region of the Atrx protein (UniProt.org). K2272R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX K46T missense unknown ATRX K46T does not lie within any known functional domains of the Atrx protein (UniProt.org). K46T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX K923N missense unknown ATRX K923N does not lie within any known functional domains of the Atrx protein (UniProt.org). K923N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX L1592F missense unknown ATRX L1592F lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1592F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX L1612P missense unknown ATRX L1612P lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1612P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX L1612V missense unknown ATRX L1612V lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). L1612V has been identified in sequencing studies (PMID: 30196423), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX L1879V missense unknown ATRX L1879V does not lie within any known functional domains of the Atrx protein (UniProt.org). L1879V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX L192S missense unknown ATRX L192S lies within the ADD domain of the Atrx protein (UniProt.org). L192S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX L2027P missense unknown ATRX L2027P lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). L2027P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX L2027R missense unknown ATRX L2027R lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). L2027R has been identified in sequencing studies (PMID: 22492626, PMID: 36835815), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2026).
ATRX L276V missense unknown ATRX L276V lies within the ADD domain of the Atrx protein (UniProt.org). L276V has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX L346P missense unknown ATRX L346P does not lie within any known functional domains of the Atrx protein (UniProt.org). L346P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX L407F missense unknown ATRX L407F does not lie within any known functional domains of the Atrx protein (UniProt.org). L407F has been identified in sequencing studies (PMID: 24710217, PMID: 22416102, PMID: 22886134), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX L595F missense unknown ATRX L595F does not lie within any known functional domains of the Atrx protein (UniProt.org). L595F has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX M1596I missense unknown ATRX M1596I lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). M1596I has been identified in the scientific literature (PMID: 34527851), but not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX N1753D missense unknown ATRX N1753D lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1753D has been identified in sequencing studies (PMID: 30075702), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX N1763I missense unknown ATRX N1763I lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1763I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX N1763K missense unknown ATRX N1763K lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). N1763K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX N2125S missense unknown ATRX N2125S lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). N2125S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX N247S missense unknown ATRX N247S lies within the ADD domain of the Atrx protein (UniProt.org). N247S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX P1228S missense unknown ATRX P1228S lies within the DAXX-interacting region of the Atrx protein (UniProt.org). P1228S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX P1750R missense unknown ATRX P1750R lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). P1750R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX P1829L missense unknown ATRX P1829L does not lie within any known functional domains of the Atrx protein (UniProt.org). P1829L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX P1886L missense unknown ATRX P1886L does not lie within any known functional domains of the Atrx protein (UniProt.org). P1886L has been identified in sequencing studies (PMID: 27997549, PMID: 25608029), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX P449L missense unknown ATRX P449L does not lie within any known functional domains of the Atrx protein (UniProt.org). P449L has been identified in sequencing studies (PMID: 30287485), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX P83L missense unknown ATRX P83L does not lie within any known functional domains of the Atrx protein (UniProt.org). P83L has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX Q1603R missense unknown ATRX Q1603R lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). Q1603R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX Q1843H missense unknown ATRX Q1843H does not lie within any known functional domains of the Atrx protein (UniProt.org). Q1843H has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX Q539R missense unknown ATRX Q539R does not lie within any known functional domains of the Atrx protein (UniProt.org). Q539R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R1371T missense unknown ATRX R1371T does not lie within any known functional domains of the Atrx protein (UniProt.org). R1371T has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R1417L missense unknown ATRX R1417L does not lie within any known functional domains of the Atrx protein (UniProt.org). R1417L has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R1427H missense unknown ATRX R1427H does not lie within any known functional domains of the Atrx protein (UniProt.org). R1427H has been identified in sequencing studies (PMID: 29296220), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R1742G missense unknown ATRX R1742G lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). R1742G has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R1742S missense unknown ATRX R1742S lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). R1742S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R1803C missense unknown ATRX R1803C does not lie within any known functional domains of the Atrx protein (UniProt.org). R1803C has been identified in sequencing studies (PMID: 24710217, PMID: 24703847), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2079* nonsense unknown ATRX R2079* results in a premature truncation of the Atrx protein at amino acid 2079 of 2492 (UniProt.org). R2079* has been identified in sequencing studies (PMID: 29338072, PMID: 30733229, PMID: 31666247), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2085P missense unknown ATRX R2085P lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2085P has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2109I missense unknown ATRX R2109I lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2109I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2111* nonsense unknown ATRX R2111* results in a premature truncation of the Atrx protein at amino acid 2111 of 2492 (UniProt.org). R2111* has been identified in sequencing studies (PMID: 24705251), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2153C missense unknown ATRX R2153C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2153C has been identified in sequencing studies (PMID: 22869205, PMID: 28423505), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2164S missense unknown ATRX R2164S lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2164S has been identified in sequencing studies (PMID: 25743702, PMID: 29058986), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2188Q missense unknown ATRX R2188Q lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2188Q has been identified in sequencing studies (PMID: 22416102, PMID: 22886134), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2197C missense unknown ATRX R2197C lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). R2197C has been identified in sequencing studies (PMID: 25257301, PMID: 33056981, PMID: 36541551), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R221K missense unknown ATRX R221K lies within the ADD domain of the Atrx protein (UniProt.org). R221K has been identified in sequencing studies (PMID: 22886134, PMID: 23104868), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R2271Kfs*14 frameshift unknown ATRX R2271Kfs*14 indicates a shift in the reading frame starting at amino acid 2271 and terminating 14 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). R2271Kfs*14 has been identified in sequencing studies (PMID: 22869205), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R246H missense unknown ATRX R246H lies within the ADD domain of the Atrx protein (UniProt.org). R246H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R444Q missense unknown ATRX R444Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R444Q has been identified in the scientific literature (PMID: 33946955), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R781Q missense unknown ATRX R781Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R781Q has not been characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026).
ATRX R78Q missense unknown ATRX R78Q does not lie within any known functional domains of the Atrx protein (UniProt.org). R78Q has been identified in sequencing studies (PMID: 29793804, PMID: 24807215), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX R808* nonsense loss of function - predicted ATRX R808* results in a premature truncation of the Atrx protein at amino acid 808 of 2492 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R808* is predicted to lead to a loss of Atrx protein function.
ATRX R81M missense unknown ATRX R81M does not lie within any known functional domains of the Atrx protein (UniProt.org). R81M has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX S1046I missense unknown ATRX S1046I does not lie within any known functional domains of the Atrx protein (UniProt.org). S1046I has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX S1173L missense unknown ATRX S1173L does not lie within any known functional domains of the Atrx protein (UniProt.org). S1173L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Apr 2026).
ATRX S1792Y missense unknown ATRX S1792Y does not lie within any known functional domains of the Atrx protein (UniProt.org). S1792Y has been identified in sequencing studies (PMID: 26692951), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX S2138F missense unknown ATRX S2138F lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). S2138F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX S342F missense unknown ATRX S342F does not lie within any known functional domains of the Atrx protein (UniProt.org). S342F has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX S576L missense unknown ATRX S576L does not lie within any known functional domains of the Atrx protein (UniProt.org). S576L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX T1928K missense unknown ATRX T1928K does not lie within any known functional domains of the Atrx protein (UniProt.org). T1928K has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, May 2026).
ATRX T899M missense unknown ATRX T899M does not lie within any known functional domains of the Atrx protein (UniProt.org). T899M has been identified in sequencing studies (PMID: 25550361), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX V128A missense unknown ATRX V128A does not lie within any known functional domains of the Atrx protein (UniProt.org). V128A has been identified in sequencing studies (PMID: 25848751), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, May 2026).
ATRX V15G missense unknown ATRX V15G does not lie within any known functional domains of the Atrx protein (UniProt.org). V15G has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX V277A missense unknown ATRX V277A lies within the ADD domain of the Atrx protein (UniProt.org). V277A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX V939L missense unknown ATRX V939L does not lie within any known functional domains of the Atrx protein (UniProt.org). V939L has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2026).
ATRX W263R missense unknown ATRX W263R lies within the ADD domain of the Atrx protein (UniProt.org). W263R has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX Y266N missense unknown ATRX Y266N lies within the ADD domain of the Atrx protein (UniProt.org). Y266N has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
ATRX Y89F missense unknown ATRX Y89F does not lie within any known functional domains of the Atrx protein (UniProt.org). Y89F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026).
BARD1 A168T missense unknown BARD1 A168T lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). A168T has been identified in sequencing studies (PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 A198V missense unknown BARD1 A198V lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). A198V has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 A638T missense unknown BARD1 A638T lies within BRCT domain 1 of the Bard1 protein (UniProt.org). A638T has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2025).
BARD1 A724T missense unknown BARD1 A724T lies within BRCT domain 2 of the Bard1 protein (UniProt.org). A724T has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 C469R missense unknown BARD1 C469R lies within ANK repeat 2 of the Bard1 protein (UniProt.org). C469R has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 C74Y missense unknown BARD1 C74Y lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C74Y has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 E355K missense unknown BARD1 E355K does not lie within any known functional domains of the Bard1 protein (UniProt.org). E355K has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 E652fs frameshift loss of function - predicted BARD1 E652fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 652 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). E652fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E652 (PMID: 30925164, PMID: 31371347), is predicted to lead to a loss of Bard1 protein function.
BARD1 G576V missense unknown BARD1 G576V lies within BRCT domain 1 of the Bard1 protein (UniProt.org). G576V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 H606D missense unknown BARD1 H606D lies within BRCT domain 1 of the Bard1 protein (UniProt.org). H606D results in increased flexibility of the BRCT domain of Bard1 in computational structural simulation (PMID: 36530327), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2025).
BARD1 I214M missense unknown BARD1 I214M lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). I214M has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BARD1 I441M missense unknown BARD1 I441M lies within ANK repeat 1 of the Bard1 protein (UniProt.org). I441M has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 K160R missense unknown BARD1 K160R lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). K160R has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 K757M missense unknown BARD1 K757M lies within BRCT domain 2 of the Bard1 protein (UniProt.org). K757M has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 L239R missense unknown BARD1 L239R lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). L239R has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 L359_P365del deletion unknown BARD1 L359_P365del results in the deletion of seven amino acids of the Bard1 protein from amino acids 359 to 365 (UniProt.org). L359_P365del has been identified in sequencing studies (PMID: 28717660, PMID: 27748766, PMID: 32756499), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BARD1 L447F missense unknown BARD1 L447F lies within ANK repeat 1 of the Bard1 protein (UniProt.org). L447F has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 L585I missense no effect - predicted BARD1 L585I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). L585I demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 39387837), and therefore, is predicted to have no effect on Bard1 protein function.
BARD1 N744D missense unknown BARD1 N744D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). N744D has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 P24_A25insGTSLVPP insertion unknown BARD1 P24_A25insGTSLVPP results in the insertion of seven amino acids in the Bard1 protein between amino acids 24 and 25 (UniProt.org). P24_A25insGTSLVPP (referred to as A23delinsAPGTSLVP) has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2025).
BARD1 P281S missense unknown BARD1 P281S does not lie within any known functional domains of the Bard1 protein (UniProt.org). P281S has been identified in sequencing studies (PMID: 29596542, PMID: 27978560, PMID: 38060977), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 P411H missense unknown BARD1 P411H does not lie within any known functional domains of the Bard1 protein (UniProt.org). P411H has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 Q237E missense unknown BARD1 Q237E lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). Q237E has been identified in sequencing studies (PMID: 25186949, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2025).
BARD1 Q493E missense unknown BARD1 Q493E lies within ANK repeat 3 of the Bard1 protein (UniProt.org). Q493E has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BARD1 R150Q missense unknown BARD1 R150Q lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). R150Q has been identified in the scientific literature (PMID: 10807537), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 R21C missense unknown BARD1 R21C does not lie within any known functional domains of the Bard1 protein (UniProt.org). R21C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 R21L missense unknown BARD1 R21L does not lie within any known functional domains of the Bard1 protein (UniProt.org). R21L has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 R529Q missense unknown BARD1 R529Q lies within ANK repeat 4 of the Bard1 protein (UniProt.org). R529Q has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Feb 2026).
BARD1 R658S missense unknown BARD1 R658S does not lie within any known functional domains of the Bard protein (UniProt.org). R658S has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BARD1 S174I missense unknown BARD1 S174I lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S174I has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BARD1 S186N missense unknown BARD1 S186N lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S186N has been identified in sequencing studies (PMID: 28195122), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Feb 2026).
BARD1 S389R missense unknown BARD1 S389R does not lie within any known functional domains of the Bard1 protein (UniProt.org). S389R has been identified in in the scientific literature (PMID: 10519411), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 S602I missense unknown BARD1 S602I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). S602I has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 S704I missense unknown BARD1 S704I lies within BRCT domain 2 of the Bard1 protein (UniProt.org). S704I has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 T267I missense unknown BARD1 T267I does not lie within any known functional domains of the Bard1 protein (UniProt.org). T267I has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2026).
BARD1 T716N missense unknown BARD1 T716N lies within BRCT domain 2 of the Bard1 protein (UniProt.org). T716N has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Feb 2026).
BARD1 V163M missense unknown BARD1 V163M lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). V163M has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BARD1 V183L missense unknown BARD1 V183L lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). V183L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2026).
BRAF A366P missense unknown BRAF A366P does not lie within any known functional domains of the Braf protein (UniProt.org). A366P is associated with EGFR inhibitor resistance in the context of an EGFR exon 19 deletion (PMID: 38838224), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026). Y
BRAF A598_T599insARC insertion unknown BRAF A598_T599insARC results in the insertion of three amino acids in the protein kinase domain of the Braf protein between amino acids 598 and 599 (UniProt.org). A598_T599insARC has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF A598S missense unknown BRAF A598S lies within the protein kinase domain of the Braf protein (UniProt.org). A598S has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025).
BRAF A762E missense unknown BRAF A762E does not lie within any known functional domains of the Braf protein (UniProt.org). A762E has been demonstrated to confer secondary resistance to Egfr inhibitors in culture (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025). Y
BRAF D587A missense unknown BRAF D587A lies within the protein kinase domain of the Braf protein (UniProt.org). D587A has been identified in sequencing studies (PMID: 14500346, PMID: 31439588), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF D587E missense unknown BRAF D587E lies within the protein kinase domain of the Braf protein (UniProt.org). D587E has been identified in sequencing studies (PMID: 27034166), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF D587G missense unknown BRAF D587G lies within the protein kinase domain of the Braf protein (UniProt.org). D587G has been identified in the scientific literature (PMID: 24803665, PMID: 37619245), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF D594Y missense unknown BRAF D594Y lies within the protein kinase domain of the Braf protein (UniProt.org). D594Y has been identified in sequencing studies (PMID: 29106415, PMID: 28486044, PMID: 32913992), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF E611D missense unknown BRAF E611D lies within the protein kinase domain of the Braf protein (UniProt.org). E611D has been identified in sequencing studies (PMID: 15935100), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF E695K missense unknown BRAF E695K lies within the protein kinase domain of the Braf protein (UniProt.org). E695K results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF F516G missense unknown BRAF F516G lies within the protein kinase domain of the Braf protein (UniProt.org). F516G has been identified in the scientific literature (PMID: 24112705), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025).
BRAF F595S missense unknown BRAF F595S lies within the protein kinase domain of the Braf protein (UniProt.org). F595S has been identified in sequencing studies (PMID: 15331929, PMID: 31795195), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jul 2025).
BRAF G258V missense unknown BRAF G258V lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). G258V results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF G464A missense unknown BRAF G464A lies within the protein kinase domain of the Braf protein (UniProt.org). G464A has been identified in the scientific literature (PMID: 34083237, PMID: 32913992), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF G469K missense unknown BRAF G469K is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469K has been identified in the scientific literature (PMID: 29325942, PMID: 30348504, PMID: 31015314), but has not been biochemically characterized, and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025).
BRAF G469L missense unknown BRAF G469L lies within the protein kinase domain of the Braf protein (UniProt.org). G469L has been identified in the scientific literature (PMID: 24035431, PMID: 26301799, PMID: 26200454), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF G534D missense unknown BRAF G534D lies within the protein kinase domain of the Braf protein (UniProt.org). G534D has been demonstrated to confer resistance to Raf inhibitors in culture (PMID: 33953400), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025). Y
BRAF G593V missense unknown BRAF G593V lies within the protein kinase domain of the Braf protein (UniProt.org). G593V is associated with EGFR inhibitor resistance in the context of an EGFR exon 19 deletion and Braf E586K, V590I, and D594N (PMID: 38838224), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF G606A missense unknown BRAF G606A lies within the protein kinase domain of the Braf protein (UniProt.org). G606A has been identified in sequencing studies (PMID: 21825258), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF G606E missense unknown BRAF G606E lies within the protein kinase domain of the Braf protein (UniProt.org). G606E has been identified in sequencing studies (PMID: 29320312, PMID: 28936923, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF G606V missense unknown BRAF G606V lies within the protein kinase domain of the Braf protein (UniProt.org). G606V has been identified in sequencing studies (PMID: 21825258, PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF H269Y missense unknown BRAF H269Y lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). H269Y results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF H608R missense unknown BRAF H608R lies within the protein kinase domain of the Braf protein (UniProt.org). H608R has been identified in sequencing studies (PMID: 15331929, PMID: 37465126), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF H725Y missense unknown BRAF H725Y does not lie within any known functional domains of the Braf protein (UniProt.org). H725Y results in Erk1/2 phosphorylation level comparable to wild-type Braf in culture (PMID: 35385748), but demonstrates increased transforming ability in one of two different cell lines in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
BRAF I463T missense unknown BRAF I463T lies within the protein kinase domain of the Braf protein (UniProt.org). I463T is predicted to lead to Braf activation based on structural modeling (PMID: 28829677), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF I463W missense unknown BRAF I463W lies within the protein kinase domain of the Braf protein (UniProt.org). I463W has been demonstrated to confer resistance to some Braf inhibitors in culture (PMID: 31925410), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025). Y
BRAF I582M missense unknown BRAF I582M lies within the protein kinase domain of the Braf protein (UniProt.org). I582M has been identified in sequencing studies (PMID: 30268455, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF I592_A598dup duplication unknown BRAF I592_A598dup indicates the insertion of seven duplicate amino acids, isoleucine (I)-592 through alanine (A)-598, in the protein kinase domain of the Braf protein (UniProt.org). I592_A598dup has been identified in sequencing studies (PMID: 27571181, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF I592M missense unknown BRAF I592M lies within the protein kinase domain of the Braf protein (UniProt.org). I592M has been identified in sequencing studies (PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF I592V missense unknown BRAF I592V lies within the protein kinase domain of the Braf protein (UniProt.org). I592V has been identified in sequencing studies (PMID: 24710085, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF K499N missense unknown BRAF K499N lies within the protein kinase domain of the Braf protein (UniProt.org). K449N results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF K601_S602delinsNT indel unknown BRAF K601_S602delinsNT results in deletion of a lysine (K) and a serine (S) in the protein kinase domain of the Braf protein from amino acids 601 to 602, combined with the insertion of an asparagine (N) and a threonine (T) at the same site (UniProt.org). K601_S602delinsNT has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Nov 2025).
BRAF K601_W604del deletion unknown BRAF K601_W604del results in the deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 601 to 604 (UniProt.org). K601_W604del has been identified in the scientific literature (PMID: 35598548), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF K601del deletion unknown BRAF K601del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 601 (UniProt.org). K601del has been identified in sequencing studies (PMID: 19152441, PMID: 24922189), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Jul 2025).
BRAF K601I missense unknown BRAF K601I lies within the protein kinase domain of the Braf protein (UniProt.org). K601I has been identified in the scientific literature (PMID: 26682952, PMID: 29176861, PMID: 32754440), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF L245F missense gain of function - predicted BRAF L245F lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). L245F results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), and increased Erk phosphorylation in cell culture (PMID: 35606856), and therefore, is predicted to lead to a gain of Braf protein function.
BRAF L485_T488delinsF indel unknown BRAF L485_T488delinsF results in a deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 485 to 488, combined with the insertion of a phenylalanine (F) at the same site (UniProt.org). L485_T488delinsF has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Mar 2026).
BRAF L485W missense unknown BRAF L485W lies within the protein kinase domain of the Braf protein (UniProt.org). L485W results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF L485Y missense unknown BRAF L485Y lies within the protein kinase domain of the Braf protein (UniProt.org). L485Y has been demonstrated to confer resistance to Raf inhibition in cell culture (PMID: 19276360), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025). Y
BRAF L584F missense unknown BRAF L584F lies within the protein kinase domain of the Braf protein (UniProt.org). L584F results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF L584P missense unknown BRAF L584P lies within the protein kinase domain of the Braf protein (UniProt.org). L584P has been identified in the scientific literature (PMID: 31569065), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF L597K missense unknown BRAF L597K lies within the protein kinase domain of the Braf protein (UniProt.org). L597K has been identified in the scientific literature (PMID: 33560788), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025).
BRAF L597P missense unknown BRAF L597P lies within the protein kinase domain of the Braf protein (UniProt.org). L597P has been identified in the scientific literature (PMID: 33777142, PMID: 39644903, PMID: 36867406), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF L613F missense unknown BRAF L613F lies within the protein kinase domain of the Braf protein (UniProt.org). L613F results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF M484_N486del deletion unknown BRAF M484_N486del results in the deletion of three amino acids within the protein kinase domain of the Braf protein (UniProt). M484_N486del has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Mar 2026).
BRAF M53I missense unknown BRAF M53I does not lie within any known functional domains of the Braf protein (UniProt.org). M53I results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF N20T missense unknown BRAF N20T does not lie within any known functional domains of the Braf protein (UniProt.org). N20T has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF N486_A489delinsK indel unknown BRAF N486_A489delinsK results in a deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 486 to 489, combined with the insertion of a lysine (K) at the same site (UniProt.org). N486_A489delinsK has been identified in sequencing studies (PMID: 29247016), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF N486_L495del deletion unknown BRAF N486_L495del results in the deletion of ten amino acids within the protein kinase domain of the Braf protein (UniProt.org). N486_L495del has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Mar 2026).
BRAF N486D missense unknown BRAF N486D lies within the protein kinase domain of the Braf protein (UniProt.org). N486D results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF N581H missense unknown BRAF N581H lies within the protein kinase domain of the Braf protein (UniProt.org). N581H has been identified in the scientific literature (PMID: 35592200, PMID: 31645765), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF P367L missense unknown BRAF P367L does not lie within any known functional domains of the Braf protein (UniProt.org). P367L has been identified in sequencing studies (PMID: 26317466, PMID: 37537257), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF P367S missense unknown BRAF P367S does not lie within any known functional domains of the Braf protein (UniProt.org). P367S results in increased transformation ability compared to wild-type Braf in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF P453T missense unknown BRAF P453T does not lie within any known functional domains of the Braf protein (UniProt.org). P453T has been identified in sequencing studies (PMID: 27717198, PMID: 16404419), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF P731S missense unknown BRAF P731S does not lie within any known functional domains of the Braf protein (UniProt.org). P731S results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF P731T missense unknown BRAF P731T does not lie within any known functional domains of the Braf protein (UniProt.org). P731T has been identified in the scientific literature (PMID: 29320312), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF Q257H missense unknown BRAF Q257H lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). Q257H has been identified in sequencing studies (PMID: 28852190, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF Q262R missense unknown BRAF Q262R lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). Q262R has been identified in sequencing studies (PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF Q609E missense unknown BRAF Q609E lies within the protein kinase domain of the Braf protein (UniProt.org). Q609E results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
BRAF Q609L missense unknown BRAF Q609L lies within the protein kinase domain of the Braf protein (UniProt.org). Q609L has been identified in the scientific literature (PMID: 31837433, PMID: 34588906), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF R239Q missense unknown BRAF R239Q lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). R239Q has been identified in the scientific literature (PMID: 29903896, PMID: 40818457), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF R444W missense unknown BRAF R444W does not lie within any known functional domains of the Braf protein (UniProt.org). R444W has been identified in sequencing studies (PMID: 15578519), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF R682W missense unknown BRAF R682W lies within the protein kinase domain of the Braf protein (UniProt.org). R682W has been demonstrated to confer resistance to an EGFR inhibitor in the context of EGFR exon 19 deletions in cultured cells (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025). Y
BRAF S147N missense unknown BRAF S147N does not lie within any known functional domains of the Braf protein (UniProt.org). S147N has been identified in the scientific literature (PMID: 34759319, PMID: 32234759), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF S363F missense unknown BRAF S363F does not lie within any known functional domains of the Braf protein (UniProt.org). S363F has been identified in the scientific literature (PMID: 29903896), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF S365L missense unknown BRAF S365L does not lie within any known functional domains of the Braf protein (UniProt.org). S365L has been demonstrated to occur as a secondary drug resistance mutation (PMID: 34178685), but has not been biochemically characterized and therefore, it's effect on Braf protein function is unknown (PubMed, Sep 2025). Y
BRAF S36A missense unknown BRAF S36A does not lie within any known functional domains of the Braf protein (UniProt.org). S36A has been identified in sequencing studies (PMID: 28423545, PMID: 31700061, PMID: 36912150), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Mar 2026).
BRAF S465C missense unknown BRAF S465C lies within the protein kinase domain of the Braf protein (UniProt.org). S465S has been identified in sequencing studies (PMID: 35244186), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025).
BRAF S602T missense unknown BRAF S602T lies within the protein kinase domain of the Braf protein (UniProt.org). S602T has been identified in sequencing studies (PMID: 24433452, PMID: 31980996), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF S605F missense unknown BRAF S605F lies within the protein kinase domain of the Braf protein (UniProt.org). S605F has been identified in sequencing studies (PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF S605N missense unknown BRAF S605N lies within the protein kinase domain of the Braf protein (UniProt.org). S605N has been identified in sequencing studies (PMID: 29176861, PMID: 28628916, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF T119S missense unknown BRAF T119S does not lie within any known functional domains of the Braf protein (UniProt.org). T119S has been identified in the scientific literature (PMID: 34301793), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025).
BRAF T470R missense unknown BRAF T470R lies within the protein kinase domain of the Braf protein (UniProt.org). T470R has been identified in the scientific literature (PMID: 33861486), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF T529I missense unknown BRAF T529I is a gatekeeper mutation that lies within the protein kinase domain of the Braf protein (PMID: 20538618). T529I has been demonstrated to confer resistance to Raf inhibitors in the context of BRAF V600E (PMID: 20538618), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2025). Y
BRAF T529M missense unknown BRAF T529M lies within the protein kinase domain of the Braf protein (UniProt.org). T529M has been demonstrated to confer resistance to Raf inhibitors (PMID: 20538618, PMID: 28783719, PMID: 31453322), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025). Y
BRAF T529N missense unknown BRAF T529N lies within the protein kinase domain of the Braf protein (UniProt.org). T529N demonstrates RAS-induced kinase activity similar to wild-type Braf in culture (PMID: 20141835), and confers resistance to Raf inhibitors (PMID: 20538618, PMID: 20807807, PMID: 20141835), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown. Y
BRAF T599_V600insEAT insertion unknown BRAF T599_V600insEAT results in the insertion of three amino acids in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). T599_V600insEAT has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Mar 2026).
BRAF T599_V600insETT insertion unknown BRAF T599_V600insETT results in the insertion of 3 amino acids in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). T599_V600insETT has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Jun 2026).
BRAF T599_V600insS insertion unknown BRAF T599_V600insS results in the insertion of a serine (S) in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). T599_V600insS has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF V226L missense unknown BRAF V226L lies within the RBD domain of the Braf protein (UniProt.org). V226L has been identified in sequencing studies (PMID: 34449929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF V459L missense unknown BRAF V459L lies within the protein kinase domain of the Braf protein (UniProt.org). V459L results in impaired Braf kinase activity and leads to Ras-dependent activation of Erk in culture (PMID: 28783719), however, in two different cell lines, induces similar proliferation and viability as compared to wild-type Braf in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
BRAF V471I missense unknown BRAF V471I lies within the protein kinase domain of the Braf protein (UniProt.org). V471I has been identified in the scientific literature (PMID: 39910160, PMID: 35978013, PMID: 36156323), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2026).
BRAF V590G missense unknown BRAF V590G lies within the protein kinase domain of the Braf protein (UniProt.org). V590G has been identified in the scientific literature (PMID: 28650588), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF V600_K601delinsEN indel unknown BRAF V600_K601delinsEN results in deletion of a valine (V) and a lysine (L) in the protein kinase domain of the Braf protein from amino acids 600 to 601, combined with the insertion of a glutamic acid (E) and an asparagine (N) at the same site (UniProt.org). V600_K601delinsEN has not been characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF V600_R603del deletion unknown BRAF V600_R603del results in the deletion of four amino acids of the Braf protein from amino acids 600 to 603 (UniProt.org). V600_R603del has been identified in sequencing studies (PMID: 35910024), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Mar 2026).
BRAF V600Q missense unknown BRAF V600Q (previously reported as V599Q) lies within the activation segment of the protein kinase domain of the Braf protein (PMID: 15035987). V600Q has been identified in the scientific literature (PMID: 28848703, PMID: 38869029), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF W531C missense unknown BRAF W531C lies within the protein kinase domain of the Braf protein (UniProt.org). W531C results in the weak activation of MEK signaling and does not induce transformation in cell culture (PMID: 19206169), but in two different cell lines, W531C demonstrates increased cell proliferation and viability as compared to wild-type Braf (PMID: 29533785), and demonstrates increased Mek and Erk signaling in drosophila (PMID: 33855281), and therefore, its effect on Braf protein function is unknown.
BRAF W604C missense unknown BRAF W604C lies within the protein kinase domain of the Braf protein (UniProt.org). W604C has been identified in the scientific literature (PMID: 30926357, PMID: 26110571, PMID: 35050727), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF W604del deletion unknown BRAF W604del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 604 (UniProt.org). W604del has been identified in sequencing studies (PMID: 15513360), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF W604G missense unknown BRAF W604G lies within the protein kinase domain of the Braf protein (UniProt.org). W604G has been identified in the scientific literature (PMID: 29769567, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF W604R missense unknown BRAF W604R lies within the protein kinase domain of the Braf protein (UniProt.org). W604R has been identified in sequencing studies (PMID: 28188106, PMID: 21825258, PMID: 23833300), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF W619R missense unknown BRAF W619R lies within the protein kinase domain of the Braf protein (UniProt.org). W619R has been identified in the scientific literature (PMID: 16179870, PMID: 36579983), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRAF Y472C missense unknown BRAF Y472C lies within the protein kinase domain of the Braf protein (UniProt.org). Y472C results in a more open Braf conformation (PMID: 33229534) and impaired Braf kinase activity, but paradoxically increases Mek and Erk signaling through CRAF transactivation (PMID: 22649091); however in two different cell lines, Y472C induces similar cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
BRAF Y538H missense unknown BRAF Y538H lies within the protein kinase domain of the Braf protein (UniProt.org). Y538H has not been characterized in the scientific literature and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2025).
BRIP1 A1167V missense unknown BRIP1 A1167V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A1167V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 A521V missense unknown BRIP1 A521V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A521V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 A551V missense unknown BRIP1 A551V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A551V has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 A745P missense unknown BRIP1 A745P does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745P has been identified in sequencing studies (PMID: 25122427), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Sep 2025).
BRIP1 A745T missense no effect - predicted BRIP1 A745T does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745T does not result in chromosomal aberrations, leads to cell cycle effects similar to wild-type Brip1 upon treatment with DNA damaging agents, and demonstrates resistance to mitomycin treatment in BRIP1-deficient cells in culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function.
BRIP1 A745V missense unknown BRIP1 A745V does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 A776S missense unknown BRIP1 A776S does not lie within any known functional domains of the Brip1 protein (UniProt.org). A776S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 C283H missense loss of function BRIP1 C283H lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283H confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, and failure to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
BRIP1 C283R missense loss of function BRIP1 C283R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283R confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
BRIP1 C283S missense loss of function BRIP1 C283S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283S confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and rescue mitomycin C-induced cell death of Brip1-knockout cells in culture (PMID: 32542039).
BRIP1 D1120A missense unknown BRIP1 D1120A does not lie within any known functional domains of the Brip1 protein (UniProt.org). D1120A has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 D184Y missense unknown BRIP1 D184Y lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). D184Y is predicted to result in abnormal splicing with skipping of exon 5 in a patient sample (PMID: 30230034), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 D674Y missense unknown BRIP1 D674Y does not lie within any known functional domains of the Brip1 protein (UniProt.org). D674Y has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 D736H missense loss of function BRIP1 D736H does not lie within any known functional domains of the Brip1 protein (UniProt.org). D736H retains binding to Brca1, Blm, and Mlh1 and results in G4 DNA unwinding activity similar to wild-type Brip1, but demonstrates decreased activity on canonical forked duplex DNA, reduced And1 binding, and decreased suppression of DNA damage in cell culture (PMID: 38177925).
BRIP1 D753N missense unknown BRIP1 D753N does no lie within any known functional domains of the Brip1 protein (UniProt.org). D753N has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 D770E missense unknown BRIP1 D770E does not lie within any known functional domains of the Brip1 protein (UniProt.org). D770E has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 D898N missense unknown BRIP1 D898N lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). D898N has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 E1097* nonsense unknown BRIP1 E1097* results in a premature truncation of the Brip1 protein at amino acid 1097 of 1249 (UniProt.org). E1097* has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 E404K missense unknown BRIP1 E404K lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). E404K has been identified in sequencing studies (PMID: 30075702), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 E718V missense unknown BRIP1 E718V does not lie within any known functional domains of the Brip1 protein (UniProt.org). E718V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 F108S missense unknown BRIP1 F108S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). F108S has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 F600L missense unknown BRIP1 F600L does not lie within any known functional domains of the Brip1 protein (UniProt.org). F600L has been identified in sequencing studies (PMID: 24121792, PMID: 21822268, PMID: 32930150), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 F934V missense unknown BRIP1 F934V lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). F934V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 H317Y missense unknown BRIP1 H317Y lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). H317Y has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 I1218M missense unknown BRIP1 I1218M does not lie within any known functional domains of the Brip1 protein (UniProt.org). I1218M has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 I507M missense unknown BRIP1 I507M does not lie within any known functional domains of the Brip1 protein (UniProt.org). I507M has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 K1086N missense unknown BRIP1 K1086N does not lie within any known functional domains of the Brip1 protein (UniProt.org). K1086N has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 K297R missense unknown BRIP1 K297R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). K297R has been identified in the scientific literature (PMID: 19127258, PMID: 29858219, PMID: 29458332), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Dec 2025).
BRIP1 K479T missense unknown BRIP1 K479T does not lie within any known functional domains of the Brip1 protein (UniProt.org). K479T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Dec 2025).
BRIP1 K577E missense unknown BRIP1 K577E does not lie within any known functional domains of the Brip1 protein (UniProt.org). K577E has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 K950T missense unknown BRIP1 K950T lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). K950T has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Dec 2025).
BRIP1 L134V missense unknown BRIP1 L134V lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L134V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 L195P missense unknown BRIP1 L195P lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L195P has been identified in sequencing studies (PMID: 28717660, PMID: 19935797, PMID: 26921362), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 L340F missense unknown BRIP1 L340F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). L340F retains the ability to suppress replisome-associated G-quadruplex (G4) structures and to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture, but results in reduced iron incorporation in an in vitro assay and decreased DNA helicase activity in culture (PMID: 32542039), and therefore, its effect on Brip1 protein function is unknown.
BRIP1 L679F missense unknown BRIP1 L679F does not lie within any known functional domains of the Brip1 protein (UniProt.org). L679F has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 L717V missense unknown BRIP1 L717V does not lie within any known functional domains of the Brip1 protein (UniProt.org). L717V has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 M620I missense unknown BRIP1 M620I does not lie within any known functional domains of the Brip1 protein (UniProt.org). M620I has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 M620V missense unknown BRIP1 M620V does not lie within any known functional domains of the Brip1 protein (UniProt.org). M620V has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 N1057* nonsense unknown BRIP1 N1057* results in a premature truncation of the Brip1 protein at amino acid 1057 of 1249 (UniProt.org). N1057* has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 N196S missense unknown BRIP1 N196S lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). N196S has been identified in the scientific literature (PMID: 26790966, PMID: 25266736, PMID: 26980737), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 N37I missense unknown BRIP1 N37I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). N37I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 P1246T missense unknown BRIP1 P1246T does not lie within any known functional domains of the Brip1 protein (UniProt.org). P1246T has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 P210H missense unknown BRIP1 P210H lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P210H has not been characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 P47L missense unknown BRIP1 P47L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). P47L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 P727L missense unknown BRIP1 P727L does not lie within any known functional domains of the Brip1 protein (UniProt.org). P727L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 P727Q missense unknown BRIP1 P727Q does not lie within any known functional domains of the Brip1 protein (UniProt.org). P727Q has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 R1035C missense unknown BRIP1 R1035C lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). R1035C has been identified in sequencing studies (PMID: 28767289, PMID: 39940038), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 R106C missense unknown BRIP1 R106C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R106C has been identified in sequencing studies (PMID: 27978560, PMID: 19935797, PMID: 35455885), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 R251H missense unknown BRIP1 R251H lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R251H has been identified in sequencing studies (PMID: 29636988, PMID: 29030356, PMID: 38773265), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 R264W missense unknown BRIP1 R264W lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R264W has been identified in sequencing studies (PMID: 27978560, PMID: 34602499, PMID: 26921362), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 R279Q missense loss of function BRIP1 R279Q lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R279Q confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, and failure to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039).
BRIP1 R419W missense unknown BRIP1 R419W lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R419W has been identified in the scientific literature (PMID: 30414346, PMID: 19935797), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Nov 2025).
BRIP1 R762C missense unknown BRIP1 R762C does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762C has been identified in sequencing studies (PMID: 29338072, PMID: 28235761, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Sep 2025).
BRIP1 R762H missense unknown BRIP1 R762H does not lie within any known functional domains of the Brip1 protein (UniProt.org). R762H has been identified in sequencing studies (PMID: 30836094, PMID: 29338072, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 S197F missense unknown BRIP1 S197F lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S197F has been identified in sequencing studies (PMID: 32832836), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Sep 2025).
BRIP1 S206L missense unknown BRIP1 S206L lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S206L has been identified in sequencing studies (PMID: 27545006, PMID: 26315354), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 S38I missense unknown BRIP1 S38I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S38I has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 S601P missense unknown BRIP1 S601P does not lie within any known functional domains of the Brip1 protein (UniProt.org). S601P has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 S624L missense unknown BRIP1 S624L does not lie within any known functional domains of the Brip1 protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 27978560, PMID: 22810696, PMID: 22197931), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 S644L missense unknown BRIP1 S644L does not lie within any known functional domains of the Brip1 protein (UniProt.org). S644L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 S861C missense unknown BRIP1 S861C does not lie within any known functional domains of the Brip1 protein (UniProt.org). S861C has been identified in the scientific literature (PMID: 30414346), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 S919P missense unknown BRIP1 S919P lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). S919P has been identified in the scientific literature (PMID: 29221171, PMID: 38962713, PMID: 28415781), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Dec 2025).
BRIP1 T1020A missense unknown BRIP1 T1020A lies within the BRCA1-interacting region of the Brip1 protein (UniProt.org). T1020A has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 T266M missense unknown BRIP1 T266M lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). T266M has been identified in sequencing studies (PMID: 26401016, PMID: 34570441, PMID: 33910496), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 T686A missense unknown BRIP1 T686A does not lie within any known functional domains of the Brip1 protein (UniProt.org). T686A has been identified in sequencing studies (PMID: 19935797, PMID: 26921362), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Feb 2026).
BRIP1 V193I missense unknown BRIP1 V193I lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). V193I has been identified in the scientific literature (PMID: 29458332, PMID: 26921362, PMID: 35240549), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 V588L missense unknown BRIP1 V588L does not lie within any known functional domains of the Brip1 protein (UniProt.org). V588L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 V779I missense unknown BRIP1 V779I does not lie within any known functional domains of the Brip1 protein (UniProt.org). V779I has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 W863L missense unknown BRIP1 W863L does not lie within any known functional domains of the Brip1 protein (UniProt.org). W863L has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
BRIP1 Y353C missense unknown BRIP1 Y353C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). Y353C has not been characterized in the scientific literature and therefore, its effect on Brip1 protein function is unknown (PubMed, Jun 2026).
CBL A186V missense unknown CBL A186V lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). A186V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL A678D missense unknown CBL A678D lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A678D has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL A757T missense unknown CBL A757T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A757T has been identified in sequencing studies (PMID: 30337359, PMID: 29866652, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL A848T missense unknown CBL A848T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A848T has been identified in sequencing studies (PMID: 26580448, PMID: 20126411, PMID: 28835699), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL A848V missense unknown CBL A848V lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A848V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Mar 2026).
CBL A850V missense unknown CBL A850V lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A850V has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL A877V missense unknown CBL A877V lies within the UBA domain of the Cbl protein (UniProt.org). A877V has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL A881T missense unknown CBL A881T lies within the UBA domain of the Cbl protein (UniProt.org). A881T has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL C381G missense unknown CBL C381G lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C381G is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL C384W missense unknown CBL C384W lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384W has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C396Y missense unknown CBL C396Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C396Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C401F missense loss of function - predicted CBL C401F lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401F results in increased Erk phosphorylation compared to wild-type Cbl in culture (PMID: 38613168), and therefore, is predicted to lead to a loss of Cbl protein function.
CBL C401R missense unknown CBL C401R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C401Y missense unknown CBL C401Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C404R missense unknown CBL C404R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C404R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C404Y missense unknown CBL C404Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C404Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C416R missense unknown CBL C416R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL C416S missense unknown CBL C416S lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416S has been identified in the scientific literature (PMID: 22071139, PMID: 31004019, PMID: 29872864), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL C416Y missense unknown CBL C416Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL C419R missense unknown CBL C419R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C419R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL D390V missense unknown CBL D390V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). D390V has been identified in the scientific literature (PMID: 24493670), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL D459V missense unknown CBL D459V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D459V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL D460del deletion unknown CBL D460del results in the deletion of an amino acid of the Cbl protein at amino acid 460 (UniProt.org). D460del has been identified in sequencing studies (PMID: 28098136, PMID: 25186949, PMID: 38468840), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Apr 2026).
CBL D501H missense unknown CBL D501H lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D501H has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL E143D missense unknown CBL E143D lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). E143D has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL E276K missense unknown CBL E276K lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). E276K has been identified in sequencing studies (PMID: 29338072, PMID: 27389057), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL E366K missense unknown CBL E366K lies within the linker region of the Cbl protein (UniProt.org). E366K has been identified in sequencing studies (PMID: 27029036, PMID: 20678218), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL E369_Y371del deletion unknown CBL E369_Y371del results in the deletion of three amino acids in the linker region of the Cbl protein from amino acids 369 to 371 (UniProt.org). E369_Y371del has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL E815D missense unknown CBL E815D lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). E815D has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL E886* nonsense unknown CBL E886* results in a premature truncation of the Cbl protein at amino acid 886 of 906 (UniProt.org). E886* has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL E894* nonsense unknown CBL E894* results in a premature truncation of the Cbl protein at amino acid 894 of 906 (UniProt.org). E894* has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL E894G missense unknown CBL E894G lies within the UBA domain of the Cbl protein (UniProt.org). E894G has been identified in sequencing studies (PMID: 32661091), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL F418I missense unknown CBL F418I lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). F418I has been identified in sequencing studies (PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL F418V missense unknown CBL F418V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). F418V has been identified in sequencing studies (PMID: 19620960), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL F622C missense unknown CBL F622C lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). F622C has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL G397V missense unknown CBL G397V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). G397V has been identified in sequencing studies (PMID: 27997717, PMID: 23010802), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL G413R missense unknown CBL G413R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C413R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL G415S missense unknown CBL G415S lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). G415S is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL G415V missense unknown CBL G415V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C415V is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL G816S missense unknown CBL G816S lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). G816S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL G868E missense unknown CBL G868E lies within the UBA domain of the Cbl protein (UniProt.org). G868E has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL G868V missense unknown CBL G868V lies within the UBA domain of the Cbl protein (UniProt.org). G868V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL H398P missense unknown CBL H398P lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). H398P is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL H398R missense unknown CBL H398R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). H398R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL H661P missense unknown CBL H661P lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). H661P has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL H903L missense unknown CBL H903L lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). H903L has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL I98T missense unknown CBL I98T lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). I98T is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL K322T missense unknown CBL K322T lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). K322T has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL K477M missense unknown CBL K477M lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). K477M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L281H missense unknown CBL L281H lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). L281H has been identified in sequencing studies (PMID: 22495314), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L380P missense unknown CBL L380P lies within the linker region of the Cbl protein (UniProt.org). L380P has been identified in the scientific literature (PMID: 19387008, PMID: 36653885, PMID: 31107544), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L405P missense unknown CBL L405P lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405P is predicted to disrupt Cbl stability by structural modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L405R missense unknown CBL L405R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405R has been identified in sequencing studies (PMID: 31107544), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L467V missense unknown CBL L467V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L467V has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L493F missense unknown CBL L493F lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L493F is predicted to result in decreased Cbl stability by protein modeling (PMID: 33550024), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Mar 2026).
CBL L620F missense unknown CBL L620F lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L620F has been identified in the scientific literature (PMID: 20126411, PMID: 28533818), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL L878F missense unknown CBL L878F lies within the UBA domain of the Cbl protein (UniProt.org). L878F has been identified in sequencing studies (PMID: 30082870), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL L892F missense unknown CBL L892F lies within the UBA domain of the Cbl protein (UniProt.org). L892F has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL M400R missense unknown CBL M400R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). M400R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL M469I missense unknown CBL M469I lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). M469I has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL N832I missense unknown CBL N832I lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). N832I has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL N890fs frameshift unknown CBL N890fs results in a change in the amino acid sequence of the Cbl protein beginning at aa 890 of 906, likely resulting in premature truncation of the functional protein (UniProt.org). N890fs has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL P201S missense unknown CBL P201S lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). P201S has been identified in sequencing studies (PMID: 25303977, PMID: 24265154), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL P417H missense unknown CBL P417H lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417H has been identified in sequencing studies (PMID: 27011036, PMID: 23010802, PMID: 37586297), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL P417L missense unknown CBL P417L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417L has been identified in sequencing studies (PMID: 27997717, PMID: 26214590, PMID: 37218733), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL P433Q missense unknown CBL P433Q lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P433Q has been identified in sequencing studies (PMID: 30171174, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL P484S missense unknown CBL P484S lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P484S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL P532S missense unknown CBL P532S lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P532S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL P546L missense unknown CBL P546L lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P546L has been identified in sequencing studies (PMID: 35306340, PMID: 31781186), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL P703L missense unknown CBL P703L lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). P703L has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL Q367_E373delinsRLK indel unknown CBL Q367_E373delinsRLK results in a deletion of seven amino acids in the linker region of the Cbl protein from amino acids 367 to 373, combined with the insertion of 3 amino acids at the same site (UniProt.org). Q367_E373delinsRLK has been identified in the scientific literature (PMID: 31088841), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CBL Q367R missense unknown CBL Q367R lies within the linker region of the Cbl protein (UniProt.org). Q367R has been identified in sequencing studies (PMID: 26956871, PMID: 30836094, PMID: 24896186), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL Q867* nonsense unknown CBL Q867* results in a premature truncation of the Cbl protein at amino acid 867 of 906 (UniProt.org). Q867* has been identified in sequencing studies (PMID: 28027327), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL Q875* nonsense unknown CBL Q875* results in a premature truncation of the Cbl protein at amino acid 875 of 906 (UniProt.org). Q875* has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL Q882H missense unknown CBL Q882H lies within the UBA domain of the Cbl protein (UniProt.org). Q882H has been identified in sequencing studies (PMID: 30352278, PMID: 37142644), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL R149Q missense unknown CBL R149Q lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). R149Q has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R420G missense unknown CBL R420G lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). R420G is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R420L missense unknown CBL R420L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). R420L demonstrates retention of binding to Cin85 in the absence of growth factor stimulation in culture (PMID: 33627783) and is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been fully biochemically characterized and therefore, its effect on Cbl protein function is unknown.
CBL R420P missense unknown CBL R420P lies within the RING-finger domain of the Cbl protein (PMID: 20501843). R420P leads to destabilization of Cbl-E2 binding in computational models (PMID: 26676746), but has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL R437I missense unknown CBL R437I lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). R437I has been identified in sequencing studies (PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL R499Q missense unknown CBL R499Q lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). R499Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R559Q missense unknown CBL R559Q lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). R559Q has been identified in sequencing studies (PMID: 28270683), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R709Q missense unknown CBL R709Q lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R709Q has been identified in sequencing studies (PMID: 27449473, PMID: 37164978), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R788Q missense unknown CBL R788Q lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R788Q has been identified in sequencing studies (PMID: 29057546, PMID: 26580448), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025).
CBL R822G missense unknown CBL R822G lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R822G has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R822T missense unknown CBL R822T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R822T has been identified in sequencing studies (PMID: 24190505), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R830K missense unknown CBL R830K lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). R830K has been identified in sequencing studies (PMID: 20126411, PMID: 39453824), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R893L missense unknown CBL R893L lies within the UBA domain of the Cbl protein (UniProt.org). R893L has been identified in sequencing studies (PMID: 28157713), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL R96S missense unknown CBL R96S lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). R96S has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL S217C missense unknown CBL S217C lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S217C has been identified in sequencing studies (PMID: 31747416), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2026).
CBL S217Y missense unknown CBL S217Y lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S217Y has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL S253F missense unknown CBL S253F lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S253F has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL S403F missense unknown CBL S403F lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). S403F has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL S675F missense unknown CBL S675F lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). S675F has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL T426A missense unknown CBL T426A lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). T426A has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL V478L missense unknown CBL V478L lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). V478L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL V813I missense unknown CBL V813I lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). V813I has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL W408L missense unknown CBL W408L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). W408L is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL Y368_K382del deletion unknown CBL Y368_K382del results in the deletion of 15 amino acids within the linker region of the Cbl protein from amino acids 368 to 382 (UniProt.org). Y368_K382del has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025).
CBL Y455_D456del deletion unknown CBL Y455_D456del results in the deletion of two amino acids of the Cbl protein from amino acids 455 to 456 (UniProt.org). Y455_D456del has been identified in sequencing studies (PMID: 25017477), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025).
CDK12 A1117E missense unknown CDK12 A1117E does not lie within any known functional domains of the Cdk12 protein (UniProt.org). A1117E has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 A1117V missense unknown CDK12 A1117V does not lie within any known functional domains of the Cdk12 protein (UniProt.org). A1117V has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 D502Y missense unknown CDK12 D502Y does not lie within any known functional domains of the Cdk12 protein (UniProt.org). D502Y has been identified in sequencing studies (PMID: 23303603, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 D918N missense unknown CDK12 D918N lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). D918N has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 E1171Q missense unknown CDK12 E1171Q does not lie within any known functional domains of the Cdk12 protein (UniProt.org). E1171Q has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 E1327D missense unknown CDK12 E1327D does not lie within any known functional domains of the Cdk12 protein (UniProt.org). E1327D has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 E774K missense unknown CDK12 E774K lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). E774K has been identified in the scientific literature (PMID: 30487607), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 F986L missense unknown CDK12 F986L lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). F986L has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 G1461Afs*38 frameshift unknown CDK12 G1461Afs*38 indicates a shift in the reading frame starting at amino acid 1461 and terminating 38 residues downstream, resulting in premature truncation of the functional protein and extension of the 1490 aa Cdk12 protein length by nine amino acids (UniProt.org). G1461Afs*38 has been identified in the scientific literature (PMID: 35452513), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 G1461C missense unknown CDK12 G1461C does not lie within any known functional domains of the Cdk12 protein (UniProt.org). G1461C has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Apr 2026).
CDK12 G677D missense unknown CDK12 G677D lies within the proline-rich motif region of the Cdk12 protein (PMID: 22512864). G677D has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 G909E missense unknown CDK12 G909E lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). G909E results in increased androgen receptor activation compared to wild-type Cdk12 and is associated with resistance to anti-androgen therapy in cultured cells (PMID: 36129942), but has not been fully biochemically characterized and therefore, its effect on Cdk12 protein function is unknown. Y
CDK12 G923V missense unknown CDK12 G923V lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). G923V has been identified in sequencing studies (PMID: 29906450, PMID: 32997692), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 H999Y missense unknown CDK12 H999Y lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). H999Y has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 I1131V missense unknown CDK12 I1131V does not lie within any known functional domains of the Cdk12 protein (UniProt.org). I1131V has been identified in sequencing studies (PMID: 26787835, PMID: 31420779), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Nov 2025).
CDK12 K1422N missense unknown CDK12 K1422N does not lie within any known functional domains of the Cdk12 protein (UniProt.org). K1422N has not been characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 K208T missense unknown CDK12 K208T lies within an arginine/serine-rich motif region of the Cdk12 protein (PMID: 22512864). K208T has been identified in sequencing studies (PMID: 24690483), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 K211T missense unknown CDK12 K211T lies within an arginine/serine-rich motif region of the Cdk12 protein (PMID: 22512864). K211T has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 K51R missense unknown CDK12 K51R does not lie within any known functional domains of the Cdk12 protein (UniProt.org). K51R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 K852Q missense unknown CDK12 K852Q lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). K852Q has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 K853N missense unknown CDK12 K853N lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). K853N has been identified in sequencing studies (PMID: 31229654), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 K932N missense unknown CDK12 K932N lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). K932N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 L926I missense unknown CDK12 L926I lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). L926I has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 P1060L missense unknown CDK12 P1060L does not lie within any known functional domains of the Cdk12 protein (UniProt.org). P1060L has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 P1275L missense unknown CDK12 P1275L lies within the proline-rich motif region of the Cdk12 protein (PMID: 22512864). P1275L has been identified in the scientific literature (PMID: 26979391, PMID: 29642553, PMID: 35347810), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 P1325S missense unknown CDK12 P1325S does not lie within any known functional domains of the Cdk12 protein (UniProt.org). P1325S has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 P250H missense unknown CDK12 P250H does not lie within any known functional domains of the Cdk12 protein (UniProt.org). P250H has been identified in sequencing studies (PMID: 27573823), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 P526H missense unknown CDK12 P526H lies within the proline-rich motif region of the Cdk12 protein (PMID: 22512864). P526H has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 P586S missense unknown CDK12 P586S lies within the proline-rich motif region of the Cdk12 protein (PMID: 22512864). P586S has been identified in sequencing studies (PMID: 32091409, PMID: 26997480), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 P653H missense unknown CDK12 P653H lies within the proline-rich motif region of the Cdk12 protein (PMID: 22512864). P653H has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 P961S missense unknown CDK12 P961S lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). P961S has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 R1008W missense unknown CDK12 R1008W lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R1008W has been identified in sequencing studies (PMID: 29338072, PMID: 27149842, PMID: 37647991), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 R1067* nonsense unknown CDK12 R1067* results in a premature truncation of the Cdk12 protein at amino acid 1067 of 1490 (UniProt.org). R1067* has been identified in sequencing studies (PMID: 25712099, PMID: 27124486, PMID: 30836094), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 R197L missense unknown CDK12 R197L does not lie within any known functional domains of the Cdk12 protein (UniProt.org). R197L has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 R378C missense unknown CDK12 R378C lies within an arginine/serine-rich motif region of the Cdk12 protein (PMID: 22512864). R378C has been identified in sequencing studies (PMID: 36230824, PMID: 36072793), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 R722C missense unknown CDK12 R722C lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R722C has not been characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 R779C missense unknown CDK12 R779C lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R779C has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 R779H missense unknown CDK12 R779H lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R779H has been identified in sequencing studies (PMID: 39725687), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Nov 2025).
CDK12 R890H missense unknown CDK12 R890H lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R890H has been identified in sequencing studies (PMID: 25151357, PMID: 36050548), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Nov 2025).
CDK12 R902P missense unknown CDK12 R902P lies within the protein kinase domain of the Cdk12 protein (PMID: 22512864). R902P has not been characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 R983_E984delinsQ indel unknown CDK12 R983_E984delinsQ results in a deletion of an arginine (R) and a glutamic acid (E) in the protein kinase domain of the Cdk12 protein from amino acids 983 to 984, combined with the insertion of a glutamine (Q) at the same site (UniProt.org). R983_E984delinsQ has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 S1236fs frameshift unknown CDK12 S1236fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 1236 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). S1236fs has been identified in the scientific literature (PMID: 33119476), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Apr 2026).
CDK12 S192Y missense unknown CDK12 S192Y lies within an arginine/serine-rich motif region of the Cdk12 protein (PMID: 22512864). S192Y has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 S475Y missense unknown CDK12 S475Y does not lie within any known functional domains of the Cdk12 protein (UniProt.org). S475Y has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 S863L missense unknown CDK12 S863L lies within the protein kinase domain of the Cdk12 protein (UniProt.org). S863L has been identified in sequencing studies (PMID: 26787835), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 T1014_Q1016del deletion unknown CDK12 T1014_Q1016del results in the deletion of three amino acids in the protein kinase domain of the Cdk12 protein from amino acids 1014 to 1016 (UniProt.org). T1014_Q1016del has not been characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 V1055G missense unknown CDK12 V1055G does not lie within any known functional domains of the Cdk12 protein (UniProt.org). V1055G has not been characterized in the scientific literature and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 V39L missense unknown CDK12 V39L does not lie within any known functional domains of the Cdk12 protein (UniProt.org). V39L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Dec 2025).
CDK12 V919F missense unknown CDK12 V919F lies within the protein kinase domain of the Cdk12 protein (UniProt.org). V919F has been identified in sequencing studies (PMID: 26787835), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, May 2026).
CDK12 W1459fs frameshift unknown CDK12 W1459fs results in a change in the amino acid sequence of the Cdk12 protein beginning at aa 1459 of 1490, likely resulting in premature truncation of the functional protein (UniProt.org). W1459fs has been identified in sequencing studies (PMID: 29367197, PMID: 32650224, PMID: 34479548), but has not been biochemically characterized and therefore, its effect on Cdk12 protein function is unknown (PubMed, Apr 2026).
CDKN2A A102V missense unknown CDKN2A A102V lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). A102V has been identified in the scientific literature (PMID: 9053859, PMID: 31026031, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A A127fs frameshift unknown CDKN2A A127fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 127 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). A127fs has been identified in sequencing studies (PMID: 9808520), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2025).
CDKN2A A20E missense unknown CDKN2A A20E lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A20E has been identified in sequencing studies (PMID: 8589032, PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2026).
CDKN2A A36_N39delinsD indel unknown CDKN2A A36_N39delinsD results in the deletion of four amino acids in ANK repeat 1 of the Cdkn2a protein from aa 36 to aa 39, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). A36_N39delinsD has not been characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A A36G missense unknown CDKN2A A36G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). A36G has been identified in sequencing studies (PMID: 25275298, PMID: 39753968), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, May 2026).
CDKN2A A57T missense unknown CDKN2A A57T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A57T has been identified in sequencing studies (PMID: 27077911, PMID: 25530832, PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A A73D missense unknown CDKN2A A73D does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A73D has been identified in sequencing studies (PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A A76T missense unknown CDKN2A A76T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A76T has been identified in sequencing studies (PMID: 31004019, PMID: 26164066, PMID: 34915860), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A D108G missense unknown CDKN2A D108G does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108G has been identified in the scientific literature (PMID: 23770606, PMID: 26873401, PMID: 33441293), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A D125fs frameshift unknown CDKN2A D125fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 125 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). D125fs has been identified in sequencing studies (PMID: 27882345, PMID: 23525077, PMID: 8637233), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A D14G missense unknown CDKN2A D14G lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14G has been identified in sequencing studies (PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A D14N missense unknown CDKN2A D14N lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). D14N has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A D74F missense unknown CDKN2A D74F does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74F has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A D74G missense unknown CDKN2A D74G does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D74G has been identified in the scientific literature (PMID: 30423298), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A E119K missense unknown CDKN2A E119K lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E119K has been identified in the scientific literature (PMID: 37649695), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A E120D missense unknown CDKN2A E120D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E120D has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A E120K missense unknown CDKN2A E120K lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E120K has been identified in the scientific literature (PMID: 21462282), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A E27del deletion unknown CDKN2A E27del results in the deletion of an amino acid in ANK repeat 1 of the Cdkn2a protein at amino acid 27 (UniProt.org). E27del has been identified in sequencing studies (PMID: 33635883), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A E61Q missense unknown CDKN2A E61Q lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). E61Q has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A E88Gfs*59 frameshift loss of function - predicted CDKN2A E88Gfs*59 indicates a shift in the reading frame starting at amino acid 88 and terminating 59 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). E88Gfs*59 has not been characterized, however, due to the effects of other truncation mutations downstream of E88 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
CDKN2A G111D missense unknown CDKN2A G111D lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). G111D has been identified in sequencing studies (PMID: 22991414, PMID: 8747595), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A G35_A36del deletion unknown CDKN2A G35_A36del results in the deletion of two amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 35 to 36 (UniProt.org). G35_A36del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A G45S missense unknown CDKN2A G45S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). G45S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A H83D missense unknown CDKN2A H83D lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83D has been identified in the scientific literature (PMID: 30430578, PMID: 35135829, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A H83Q missense unknown CDKN2A H83Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Q has been identified in sequencing studies (PMID: 28506684, PMID: 12117769), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A H83R missense unknown CDKN2A H83R lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83R has been identified in sequencing studies (PMID: 25456132, PMID: 35700150, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A L130Q missense unknown CDKN2A L130Q lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130Q has been identified in the scientific literature (PMID: 35392854, PMID: 23565280), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A L130R missense unknown CDKN2A L130R lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130R has been identified in sequencing studies (PMID: 22156295, PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A L130V missense unknown CDKN2A L130V lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). L130V has been identified in sequencing studies (PMID: 21462282), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A L31V missense unknown CDKN2A L31V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31V has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A L32_L37del deletion unknown CDKN2A L32_L37del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 32 to 37 (UniProt.org). L32_L37del has been identified in the scientific literature (PMID: 33050356), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A L62_E69del deletion unknown CDKN2A L62_E69del results in the deletion of eight amino acids in ANK repeat 2 of the Cdkn2a protein from amino acids 62 to 69 (UniProt.org). L62_E69del has been identified in the scientific literature (PMID: 39413339), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Aug 2025).
CDKN2A L63_P70del deletion unknown CDKN2A L63_P70del results in the deletion of eight amino acids in ANK repeat 2 of the Cdkn2a protein from amino acids 63 to 70 (UniProt.org). L63_P70del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A L63Q missense unknown CDKN2A L63Q lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). L63Q has been identified in sequencing studies (PMID: 32704002), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A M52I missense unknown CDKN2A M52I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52I has been identified in sequencing studies (PMID: 19593635), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2025).
CDKN2A M52L missense unknown CDKN2A M52L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52L has been identified in sequencing studies (PMID: 29970484, PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A N39_N42del deletion unknown CDKN2A N39_N42del results in the deletion of four amino acids of the Cdkn2a protein from amino acids 39 to 42 (UniProt.org). N39_N42del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A N42I missense unknown CDKN2A N42I does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42I has been identified in sequencing studies (PMID: 30992440), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A N42K missense unknown CDKN2A N42K does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42K has been identified in the scientific literature (PMID: 31741767), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A N42Y missense unknown CDKN2A N42Y does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42Y has been identified in sequencing studies (PMID: 38825709), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A P114F missense unknown CDKN2A P114F lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114F has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A P114T missense unknown CDKN2A P114T lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). P114T has been identified in sequencing studies (PMID: 29026114), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2025).
CDKN2A P70T missense unknown CDKN2A P70T lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P70T has been identified in sequencing studies (PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A P75S missense unknown CDKN2A P75S does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). P75S has been identified in the scientific literature (PMID: 30709382, PMID: 36995892), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A R112P missense unknown CDKN2A R112P lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). R112P has been identified in sequencing studies (PMID: 29279705, PMID: 8895759), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A R128fs frameshift unknown CDKN2A R128fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 128 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). R128fs has been identified in the scientific literature (PMID: 12853981, PMID: 21085193), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2025).
CDKN2A R29_A34del deletion unknown CDKN2A R29_A34del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 29 to 34 (UniProt.org). R29_A34del has been identified in sequencing studies (PMID: 30857943, PMID: 26390243), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A R80P missense unknown CDKN2A R80P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80P has been identified in sequencing studies (PMID: 26919633, PMID: 31175866), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Aug 2025).
CDKN2A R80Q missense unknown CDKN2A R80Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80Q has been identified in sequencing studies (PMID: 27311873, PMID: 16354195), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A S12L missense unknown CDKN2A S12L lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). S12L has been identified in the scientific literature (PMID: 34676917), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A S43I missense unknown CDKN2A S43I does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). S43I has been identified in sequencing studies (PMID: 14556920, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A S56N missense unknown CDKN2A S56N lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). S56N has been identified in the scientific literature (PMID: 9414654, PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A V28_E33del deletion unknown CDKN2A V28_E33del results in the deletion of six amino acids in ANK repeat 1 of the Cdkn2a protein from amino acids 28 to 33 (UniProt.org). V28_E33del has been identified in the scientific literature (PMID: 36628896), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Aug 2025).
CDKN2A V51I missense unknown CDKN2A V51I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). V51I rescues G1-cell cycle arrest similar to wild-type Cdkn2a in cultured cells (PMID: 11113205), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
CDKN2A V51Sfs*2 frameshift loss of function - predicted CDKN2A V51Sfs*2 indicates a shift in the reading frame starting at amino acid 51 and terminating 2 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). V51Sfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of V51 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
CDKN2A V82E missense unknown CDKN2A V82E lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82E has been identified in the scientific literature (PMID: 27245685, PMID: 31173267), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026).
CDKN2A V82M missense unknown CDKN2A V82M lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82M has been identified in sequencing studies (PMID: 29348365, PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2025).
CDKN2A Y129* nonsense unknown CDKN2A Y129* results in a premature truncation of the Cdkn2a protein at amino acid 129 of 156 (UniProt.org). Y129* has been identified in sequencing studies (PMID: 30291346, PMID: 23565280, PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A Y129C missense unknown CDKN2A Y129C lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). Y129C has been identified in the scientific literature (PMID: 34393517), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CDKN2A Y44C missense unknown CDKN2A Y44C lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). Y44C has not been characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025).
CHEK1 D130Y missense unknown CHEK1 D130Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). D130Y has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 D235N missense unknown CHEK1 D235N lies within the protein kinase domain of the Chek1 protein (UniProt.org). D235N has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 D235Y missense unknown CHEK1 D235Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). D235Y has been identified in sequencing studies (PMID: 22510280), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 D336N missense unknown CHEK1 D336N does not lie within any known functional domains of the Chek1 protein (UniProt.org). D336N has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 D8N missense unknown CHEK1 D8N lies within the CLSPN-interacting region of the Chk1 protein (UniProt.org). D8N has been identified in sequencing studies (PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 E223_T226delinsA indel unknown CHEK1 E223_T226delinsA results in a deletion of four amino acids from aa 223 to 226 within the protein kinase domain of the Chek1 protein, combined with the insertion of an Alanine (A) at the same site (UniProt.org). E223_T226delinsA has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 E309K missense unknown CHEK1 E309K does not lie within any known functional domains of the Chek1 protein (UniProt.org). E309K has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 E32D missense unknown CHEK1 E32D lies within the protein kinase domain of the Chek1 protein (UniProt.org). E32D has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 F93V missense unknown CHEK1 F93V lies within the protein kinase domain of the Chek1 protein (UniProt.org). F93V has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 G169S missense unknown CHEK1 G169S lies within the protein kinase domain of the Chek1 protein (UniProt.org). G169S has been identified in sequencing studies (PMID: 26168399, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 G195R missense unknown CHEK1 G195R lies within the protein kinase domain of the Chek1 protein (UniProt.org). G195R has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 G21R missense unknown CHEK1 G21R lies within the protein kinase domain of the Chek1 protein (UniProt.org). G21R demonstrates splicing similar to wild-type Chek1 in a minigene splicing assay (PMID: 31811167), but has not been fully biochemically characterized, and therefore, its effect on Chek1 protein function is unknown.
CHEK1 G289* nonsense unknown CHEK1 G289* results in a premature truncation of the Chek1 protein at amino acid 289 of 476 (UniProt.org). G289* has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 H122Y missense unknown CHEK1 H122Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). H122Y has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 H243fs frameshift unknown CHEK1 H243fs results in a change in the amino acid sequence of the Chek1 protein beginning at aa 243 of 476, likely resulting in premature truncation of the functional protein (UniProt.org). H243fs has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 I234Sfs*6 frameshift unknown CHEK1 I234Sfs*6 indicates a shift in the reading frame starting at amino acid 234 and terminating six residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). I234Sfs*6 has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 K232N missense unknown CHEK1 K232N lies within the protein kinase domain of the Chek1 protein (UniProt.org). K232N has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 K233T missense unknown CHEK1 K233T lies within the protein kinase domain of the Chek1 protein (UniProt.org). K233T has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 K470* nonsense unknown CHEK1 K470* results in a premature truncation of the Chek1 protein at amino acid 470 of 476 (UniProt.org). K470* has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 L136F missense unknown CHEK1 L136F lies within the protein kinase domain of the Chek1 protein (UniProt.org). L136F has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 L338S missense unknown CHEK1 L338S does not lie within any known functional domains of the Chek1 protein (UniProt.org). L338S has been identified in sequencing studies (PMID: 24670651), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, May 2026).
CHEK1 L360F missense unknown CHEK1 L360F does not lie within any known functional domains of the Chek1 protein (UniProt.org). L360F has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 M1? unknown unknown CHEK1 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Chek1 protein. M1? has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 P238fs frameshift unknown CHEK1 P238fs results in a change in the amino acid sequence of the Chek1 protein beginning at aa 238 of 476, likely resulting in premature truncation of the functional protein (UniProt.org). P238fs has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 R141S missense unknown CHEK1 R141S lies within the protein kinase domain of the Chek1 protein (UniProt.org). R141S has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 R156W missense unknown CHEK1 R156W lies within the protein kinase domain of the Chek1 protein (UniProt.org). R156W is predicted to result in decreased protein flexibility by structural modeling (PMID: 38047473), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 R160C missense unknown CHEK1 R160C lies within the protein kinase domain of the Chek1 protein (UniProt.org). R160C has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 R160H missense unknown CHEK1 R160H lies within the protein kinase domain of the Chek1 protein (UniProt.org). R160H has been identified in the scientific literature (PMID: 23917401, PMID: 26674132, PMID: 34789479), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 R419S missense unknown CHEK1 R419S lies within the autoinhibitory region of the Chek1 protein (UniProt.org). R419S has been identified in the scientific literature (PMID: 28972186), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 R442W missense unknown CHEK1 R442W lies within the autoinhibitory region of the Chek1 protein (UniProt.org). R442W has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 S193Y missense unknown CHEK1 S193Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). S193Y has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 S284L missense unknown CHEK1 S284L does not lie within any known functional domains of the Chek1 protein (UniProt.org). S284L has been identified in sequencing studies (PMID: 37591896), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, May 2026).
CHEK1 S296F missense unknown CHEK1 S296F does not lie within any known functional domains of the Chek1 protein (UniProt.org). S296F has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 T226Hfs*14 frameshift unknown CHEK1 T226Hfs*14 indicates a shift in the reading frame starting at amino acid 226 and terminating 14 residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). T226Hfs*14 has been identified in sequencing studies (PMID: 38957326, PMID: 39398648, PMID: 41100773), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, May 2026).
CHEK1 T226Nfs*19 frameshift unknown CHEK1 T226Nfs*19 indicates a shift in the reading frame starting at amino acid 226 and terminating 19 residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). T226Nfs*19 has been identified in sequencing studies (PMID: 36866757), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 V312M missense unknown CHEK1 V312M does not lie within any known functional domains of the Chek1 protein (UniProt.org). V312M has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 V439L missense unknown CHEK1 V439L lies within the autoinhibitory region of the Chek1 protein (UniProt.org). V439L has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK1 V46A missense unknown CHEK1 V46A lies within the protein kinase domain of the Chek1 protein (UniProt.org). V46A has been identified in the scientific literature (PMID: 27452673), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Dec 2025).
CHEK2 A247T missense unknown CHEK2 A247T lies within the protein kinase domain of the Chek2 protein (UniProt.org). A247T has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 A392V missense loss of function CHEK2 A392V lies within the protein kinase domain of the Chek2 protein (UniProt.org). A392V results in decreased autophosphorylation of Chek2 (PMID: 28743916, PMID: 37449874) and Kap1 phosphorylation in culture (PMID: 37449874), leads to decreased Chek2 protein stability, and results in decreased Kap1 phosphorylation upon ionizing radiation in cell culture (PMID: 34903604).
CHEK2 A541G missense unknown CHEK2 A541G does not lie within any known functional domains of the Chek2 protein (UniProt.org). A541G has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 D134Y missense unknown CHEK2 D134Y lies within the FHA domain of the Chek2 protein (UniProt.org). D134Y has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 E275* nonsense loss of function - predicted CHEK2 E275* results in a premature truncation within the protein kinase domain of the Chek2 protein at amino acid 275 of 543 (UniProt.org). E275* has not been characterized, however, due to the effects of other truncation mutations downstream of E275 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
CHEK2 E275K missense unknown CHEK2 E275K lies within the protein kinase domain of the Chek2 protein (UniProt.org). E275K has been identified in the scientific literature (PMID: 38773265), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 E305G missense unknown CHEK2 E305G lies within the protein kinase domain of the Chek2 protein (UniProt.org). E305G has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 E351D missense unknown CHEK2 E351D lies within the protein kinase domain of the Chek2 protein (UniProt.org). E351D results in an intermediate level of Chek2 autophosphorylation at T383 and reduced Kap1 phosphorylation upon ionizing radiation in culture (PMID: 34903604), and decreased Kap1 phosphorylation and Chek2 autophosphorylation at S516 in CHEK2-null cells in culture (PMID: 37449874), and therefore, its effect on Chek2 protein function is unknown.
CHEK2 E454V missense unknown CHEK2 E454V lies within the protein kinase domain of the Chek2 protein (UniProt.org). E454V has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 G102V missense unknown CHEK2 G102V does not lie within any known functional domains of the Chek2 protein (UniProt.org). G102V has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 G116A missense unknown CHEK2 G116A lies within the FHA domain of the Chek2 protein (UniProt.org). G116A has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Dec 2025).
CHEK2 G232R missense unknown CHEK2 G232R lies within the protein kinase domain of the Chek2 protein (UniProt.org). G232R has been identified in sequencing studies (PMID: 24670651), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 G306W missense unknown CHEK2 G306W lies within the protein kinase domain of the Chek2 protein (UniProt.org). G306W has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 H339Y missense unknown CHEK2 H339Y lies within the protein kinase domain of the Chek2 protein (UniProt.org). H339Y has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 I251M missense unknown CHEK2 I251M lies within the protein kinase domain of the Chek2 protein (UniProt.org). I251M has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 I276S missense unknown CHEK2 I276S lies within the protein kinase domain of the Chek2 protein (UniProt.org). I276S has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 K135T missense unknown CHEK2 K135T lies within the FHA domain of the Chek2 protein (UniProt.org). K135T has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 K249N missense unknown CHEK2 K249N lies within the protein kinase domain of the Chek2 protein (UniProt.org). K249N has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 K279T missense unknown CHEK2 K279T lies within the protein kinase domain of the Chek2 protein (UniProt.org). K279T has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 K373E missense loss of function CHEK2 K373E lies within the protein kinase domain of the Chek2 protein (UniProt.org). K373E results in decreased Chek2 kinase activity (PMID: 27716909) and autophosphorylation (PMID: 27716909, PMID: 37449874), and Kap1 phosphorylation (PMID: 37449874), and fails to inhibit cell proliferation or promote survival following radiation in cell culture (PMID: 27716909).
CHEK2 L226F missense unknown CHEK2 L226F lies within the protein kinase domain of the Chek2 protein (UniProt.org). L226F has been identified in sequencing studies (PMID: 27442865, PMID: 35734982, PMID: 36479692), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 L338R missense unknown CHEK2 L338R lies within the protein kinase domain of the Chek2 protein (UniProt.org). L338R has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 L354V missense unknown CHEK2 L354V lies within the protein kinase domain of the Chek2 protein (UniProt.org). L354V has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 L355P missense unknown CHEK2 L355P lies within the protein kinase domain of the Chek2 protein (UniProt.org). L355P has been identified in sequencing studies (PMID: 18186519, PMID: 17145815), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 M381* nonsense unknown CHEK2 M381* results in a premature truncation within the protein kinase domain of the Chek2 protein at amino acid 381 of 543 (UniProt.org). M381* has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 N185T missense unknown CHEK2 N185T does not lie within any known functional domains of the Chek2 protein (UniProt.org). N185T has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 P182H missense unknown CHEK2 P182H does not lie within any known functional domains of the Chek2 protein (UniProt.org). P182H has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 P182L missense unknown CHEK2 P182L does not lie within any known functional domains of the Chek2 protein (UniProt.org). P182L has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 P90S missense unknown CHEK2 P90S does not lie within any known functional domains of the Chek2 protein (UniProt.org). P90S has been identified in sequencing studies (PMID: 26580448), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 Q487R missense unknown CHEK2 Q487R does not lie within any known functional domains of the Chek2 protein (UniProt.org). Q487R has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 R346G missense unknown CHEK2 R346G lies within the protein kinase domain of the Chek2 protein (UniProt.org). R346G has been identified in the scientific literature (PMID: 26981779), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 R406Vfs*8 frameshift unknown CHEK2 R406Vfs*8 indicates a shift in the reading frame starting at amino acid 406 and terminating 8 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). R406Vfs*8 has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 R519G missense unknown CHEK2 R519G does not lie within any known functional domains of the Chek2 protein (UniProt.org). R519G has been identified in the scientific literature (PMID: 24879340, PMID: 24413734, PMID: 36482360), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 R521Q missense unknown CHEK2 R521Q does not lie within any known functional domains of the Chek2 protein (UniProt.org). R521Q results in impaired nuclear localization (PMID: 37449874), but has not been fully biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Dec 2025).
CHEK2 R523fs frameshift unknown CHEK2 R523fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 523 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). R523fs has been identified in sequencing studies (PMID: 32183364, PMID: 31214711), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Apr 2026).
CHEK2 S24C missense unknown CHEK2 S24C does not lie within any known functional domains of the Chek2 protein (UniProt.org). S24C has not been characterized in the scientific literature and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CHEK2 T532I missense unknown CHEK2 T532I does not lie within any known functional domains of the Chek2 protein (UniProt.org). T532I has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Feb 2026).
CHEK2 V109A missense unknown CHEK2 V109A does not lie within any known functional domains of the Chek2 protein (UniProt.org). V109A has been identified in the scientific literature (PMID: 21765476), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Mar 2026).
CSF3R A119T missense loss of function CSF3R A119T lies within the extracellular domain of the Csf3r protein (UniProt.org). A119T leads to a loss of Csf3r protein function as demonstrated by decreased cytokine-induced proliferation and phosphorylation of Stat3 and Stat5 in culture (PMID: 33108454).
CSF3R A124V missense unknown CSF3R A124V lies within the extracellular domain of the Csf3r protein (UniProt.org). A124V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R A208V missense unknown CSF3R A208V lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). A208V has been identified in sequencing studies (PMID: 25957691), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, May 2026).
CSF3R A383V missense unknown CSF3R A383V lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). A383V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R A470T missense unknown CSF3R A470T lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A470T has been identified in sequencing studies (PMID: 28825054), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Oct 2025).
CSF3R A520S missense unknown CSF3R A520S lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). A520S has been identified in sequencing studies (PMID: 24798001), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R A593T missense unknown CSF3R A593T lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). A593T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R A602S missense unknown CSF3R A602S lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). A602S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R A778V missense unknown CSF3R A778V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). A778V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R A832V missense unknown CSF3R A832V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). A832V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R C52G missense unknown CSF3R C52G lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). C52G has been identified in sequencing studies (PMID: 27742771), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R D236G missense unknown CSF3R D236G lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D236G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R D320N missense unknown CSF3R D320N lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). D320N has been identified in the scientific literature (PMID: 23774674, PMID: 30891028, PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Oct 2025).
CSF3R D364Y missense unknown CSF3R D364Y lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). D364Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R D40N missense unknown CSF3R D40N lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). D40N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R D510H missense unknown CSF3R D510H lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). D510H has been identified in sequencing studies (PMID: 27742771), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R D702G missense unknown CSF3R D702G lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). D702G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Mar 2026).
CSF3R D810* nonsense unknown CSF3R D810* results in a premature truncation of the Csf3r protein at amino acid 810 of 836 (UniProt.org). D810* has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Sep 2025).
CSF3R E149D missense unknown CSF3R E149D lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149D has been identified in the scientific literature (PMID: 30891028), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Oct 2025).
CSF3R E149Q missense unknown CSF3R E149Q lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). E149Q has been identified in sequencing studies (Blood (2018) 132 (Supplement 1): 4389), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Oct 2025).
CSF3R E254K missense unknown CSF3R E254K lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). E254K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R E363D missense unknown CSF3R E363D lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E363D has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R E363V missense unknown CSF3R E363V lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E363V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R E405K missense unknown CSF3R E405K lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). E405K has been identified in the scientific literature (PMID: 30891028, PMID: 38054407), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R E501K missense unknown CSF3R E501K lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E501K has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R E553K missense unknown CSF3R E553K lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). E553K has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R E700Q missense unknown CSF3R E700Q lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E700Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R E808K missense unknown CSF3R E808K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). E808K (also referred to as E785K) results in decreased colony formation compared to wild-type Csf3r in cultured cells, however, does not alter activation of Erk2, Mapk, Jnk, or Stat5, or cell differentiation (PMID: 15644419), and is not transforming in cell culture (PMID: 26475333), and therefore, its effect on Csf3r protein function is unknown.
CSF3R F156S missense unknown CSF3R F156S lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). F156S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R F813* nonsense unknown CSF3R F813* results in a premature truncation of the Csf3r protein at amino acid 813 of 836 (UniProt.org). F813* has been identified in the sequencing studies (PMID: 34975010), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R G147_P148insR insertion unknown CSF3R G147_P148insR results in the insertion of an arginine (R) in fibronectin type-III domain 1 of the Csf3r protein between amino acids 147 and 148 (UniProt.org). G147_P148insR has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G21R missense unknown CSF3R G21R lies within the signal peptide region of the Csf3r protein (UniProt.org). G21R has been identified in sequencing studies (PMID: 22722829, PMID: 35251624), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G415R missense unknown CSF3R G415R lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). G415R has been identified in the scientific literature (PMID: 30295334), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R G487W missense unknown CSF3R G487W lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). G487W has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G513E missense unknown CSF3R G513E lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). G513E has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G539C missense unknown CSF3R G539C lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). G539C has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G555R missense unknown CSF3R G555R lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). G555R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G671C missense unknown CSF3R G671C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G671C has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G687S missense unknown CSF3R G687S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G687S has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677, Blood (2024), 144 (Supplement 1): 3199, 5 Nov 2024), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R G72R missense unknown CSF3R G72R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). G72R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G731R missense unknown CSF3R G731R lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G731R has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R G757D missense unknown CSF3R G757D lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). G757D has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R G81R missense unknown CSF3R G81R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). G81R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R H588Y missense unknown CSF3R H588Y lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). H588Y has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R I48N missense unknown CSF3R I48N lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). I48N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R I494V missense unknown CSF3R I494V lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). I494V has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R I598M missense unknown CSF3R I598M lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). I598M has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R K180N missense unknown CSF3R K180N lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). K180N has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R K785E missense unknown CSF3R K785E lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K785E has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L219I missense unknown CSF3R L219I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). L219I has been identified in sequencing studies (PMID: 34465320), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R L23M missense unknown CSF3R L23M lies within the signal peptide region of the Csf3r protein (UniProt.org). L23M has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L285F missense unknown CSF3R L285F lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). L285F has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L55Q missense unknown CSF3R L55Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L55Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L595V missense unknown CSF3R L595V lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). L595V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L619S missense unknown CSF3R L619S lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). L619S has been identified in sequencing studies (PMID: 33108454, PMID: 30385747, PMID: 39080258), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R L62Q missense unknown CSF3R L62Q lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). L62Q has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L685P missense unknown CSF3R L685P lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L685P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R L723V missense unknown CSF3R L723V lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L723V has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677, Blood (2024), 144 (Supplement 1): 3199, 5 Nov 2024), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R L768R missense unknown CSF3R L768R lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). L768R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R M133I missense unknown CSF3R M133I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). M133I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R M199I missense unknown CSF3R M199I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). M199I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R M231V missense unknown CSF3R M231V lies within the extracellular domain of the Csf3r protein (UniProt.org). M231V has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R M601I missense unknown CSF3R M601I lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). M601I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R N656S missense unknown CSF3R N656S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N656S has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R N713K missense unknown CSF3R N713K lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N713K has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R N789S missense unknown CSF3R N789S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). N789S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P20L missense unknown CSF3R P20L lies within the signal peptide region of the Csf3r protein (UniProt.org). P20L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P221L missense unknown CSF3R P221L lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). P221L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P34L missense unknown CSF3R P34L lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). P34L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P34S missense unknown CSF3R P34S lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). P34S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R P360L missense unknown CSF3R P360L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). P360L has been identified in sequencing studies (PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P467L missense unknown CSF3R P467L lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). P467L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P527S missense unknown CSF3R P527S lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). P527S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P621A missense unknown CSF3R P621A lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). P621A has been identified in the scientific literature (PMID: 29572350), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Oct 2025).
CSF3R P675S missense unknown CSF3R P675S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P675S has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R P782Hfs*8 frameshift unknown CSF3R P782Hfs*8 indicates a shift in the reading frame starting at amino acid 782 and terminating 8 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). P782Hfs*8 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R P782L missense unknown CSF3R P782L lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). P782L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R Q168H missense unknown CSF3R Q168H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Q168H has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R Q197H missense unknown CSF3R Q197H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Q197H has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R Q739* nonsense unknown CSF3R Q739* results in a premature truncation of the Csf3r protein at amino acid 739 of 836 (UniProt.org). Q739* has been identified in the scientific literature (PMID: 25865944, PMID: 29932212, PMID: 36579444), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R Q749* nonsense unknown CSF3R Q749* results in a premature truncation of the Csf3r protein at amino acid 749 of 836 (UniProt.org). Q749* has been identified in sequencing studies (PMID: 30891028, PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R R118P missense unknown CSF3R R118P lies within the extracellular domain of the Csf3r protein (UniProt.org). R118P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R190H missense unknown CSF3R R190H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R233W missense unknown CSF3R R233W lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R233W has been identified in sequencing studies (PMID: 29316426, PMID: 26857262), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R R269C missense unknown CSF3R R269C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R269C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R274C missense unknown CSF3R R274C lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). R274C has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R343W missense unknown CSF3R R343W lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R343W has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R367W missense unknown CSF3R R367W lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R367W has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R418H missense unknown CSF3R R418H lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R418H has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R428K missense unknown CSF3R R428K lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). R428K has been identified in the scientific literature (Blood (2021), 138 (Supplement 1): 3667, 23 Nov 2021), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Apr 2025). has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R R440Q missense unknown CSF3R R440Q lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R440Q has been identified in the scientific literature (PMID: 23774674, PMID: 36741006, PMID: 33108454), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R484T missense unknown CSF3R R484T lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). R484T has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R583L missense unknown CSF3R R583L lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). R583L has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R R769C missense unknown CSF3R R769C lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). R769C has been identified in sequencing studies (PMID: 25798586), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S374Y missense unknown CSF3R S374Y lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S374Y has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S413L missense unknown CSF3R S413L lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). S413L has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R S473G missense unknown CSF3R S473G lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). S473G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S557G missense unknown CSF3R S557G lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S557G has been identified in the scientific literature (PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R S573F missense unknown CSF3R S573F lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S573F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S581F missense unknown CSF3R S581F lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S581P missense unknown CSF3R S581P lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S581P has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S582F missense unknown CSF3R S582F lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S582F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S594G missense unknown CSF3R S594G lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). S594G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S624L missense unknown CSF3R S624L lies within the extracellular domain of the Csf3r protein (UniProt.org). S624L has been identified in sequencing studies (PMID: 23303603, PMID: 34975010), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S651N missense unknown CSF3R S651N lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S651N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S661N missense unknown CSF3R S661N lies within the box 1 motif of the Csf3r protein (UniProt.org). S661N has been identified in the scientific literature (PMID: 34573308), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R S669G missense unknown CSF3R S669G lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). S669G has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R S786Lfs*2 frameshift unknown CSF3R S786Lfs*2 indicates a shift in the reading frame starting at amino acid 786 and terminating 2 residues downstream causing a premature truncation of the 836 amino acid Csf3r protein (UniProt.org). S786Lfs*2 has been identified in the scientific literature (PMID: 29932212), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R S79F missense unknown CSF3R S79F lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). S79F has been identified in sequencing studies (PMID: 26758680), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R T137I missense unknown CSF3R T137I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T137I has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R T154I missense unknown CSF3R T154I lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). T154I has been identified in the scientific literature (Blood (2021), 131 (Supplement 1): 3677), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Nov 2025).
CSF3R T234I missense unknown CSF3R T234I lies within fibronectin type-III domain 2 of the Csf3r protein (UniProt.org). T234I has not been characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R T476I missense unknown CSF3R T476I lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). T476I has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R T618I missense gain of function CSF3R T618I lies within the extracellular domain proximal to the transmembrane domain of the Csf3r protein (PMID: 23656643). T618I confers a gain of function to the Csf3r protein as demonstrated by increased proliferation (PMID: 23656643), increased colony formation (PMID: 31784538), increased downstream Jak-Stat signaling in transformed cells in culture (PMID: 23656643), and led to the development of leukemia in a mouse model (PMID: 31784538).
CSF3R T690M missense unknown CSF3R T690M lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T690M has been identified in sequencing studies (PMID: 27070704), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R T799S missense unknown CSF3R T799S lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). T799S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R V178M missense unknown CSF3R V178M lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). V178M has been identified in sequencing studies (PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R V812F missense unknown CSF3R V812F lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). V812F has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R W105R missense unknown CSF3R W105R lies within the Ig-like C2-type domain of the Csf3r protein (UniProt.org). W105R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R W202S missense unknown CSF3R W202S lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). W202S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R W356S missense unknown CSF3R W356S lies within fibronectin type-III domain 3 of the Csf3r protein (UniProt.org). W356S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R W547R missense unknown CSF3R W547R lies within fibronectin type-III domain 5 of the Csf3r protein (UniProt.org). W547R has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R Y121S missense unknown CSF3R Y121S lies within the extracellular domain of the Csf3r protein (UniProt.org). Y121S has not been characterized in the scientific literature and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R Y196H missense unknown CSF3R Y196H lies within fibronectin type-III domain 1 of the Csf3r protein (UniProt.org). Y196H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Feb 2026).
CSF3R Y752* nonsense unknown CSF3R Y752* results in a premature truncation of the Csf3r protein at amino acid 752 of 836 (UniProt.org). Y752* has been identified in the scientific literature (PMID: 23656643), but has not been biochemically characterized and therefore, its effect on Csf3r protein function is unknown (PubMed, Aug 2025).
CTNNB1 A20V missense unknown CTNNB1 A20V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). A20V is predicted to result in decreased interaction with Gsk3b and decreased stability by structural modeling (PMID: 39202333), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 A21_A149del deletion unknown CTNNB1 A21_A149del results in the deletion of 129 amino acids of the Ctnnb1 protein from amino acids 21 to 149 (UniProt.org). A21_A149del has been identified in sequencing studies (PMID: 24735922, PMID: 27939373), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 A21_A152del deletion unknown CTNNB1 A21_A152del results in the deletion of 132 amino acids of the Ctnnb1 protein from amino acids 21 to 152 (UniProt.org). A21_A152del has been identified in sequencing studies (PMID: 23887712), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 A43_P44dup duplication unknown CTNNB1 A43_P44dup indicates the insertion of two duplicate amino acids, alanine (A)-43 through proline (P)-44, in the Ctnnb1 protein (UniProt.org). A43_P44dup has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jun 2025).
CTNNB1 A43V missense unknown CTNNB1 A43V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A43V is not associated with nuclear accumulation of beta-catenin in patient samples (PMID: 10213482), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
CTNNB1 A5_Q143del deletion unknown CTNNB1 A5_Q143del results in the deletion of 139 amino acids of the Ctnnb1 protein from amino acids 5 to 143, which includes complete loss of exon 3 (UniProt.org, PMID: 27177928). A5_Q143del has been identified in sequencing studies (PMID: 10698519), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 A702V missense unknown CTNNB1 A702V does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). A702V has been identified in sequencing studies (PMID: 24336570), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 D11V missense unknown CTNNB1 D11V lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). D11V has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 D162E missense unknown CTNNB1 D162E lies within ARM repeat 1 of the Ctnnb1 protein (UniProt.org). D162E has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 D32_I35delinsV indel unknown CTNNB1 D32_I35delinsV results in a deletion of four amino acids within the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 32 to 35, combined with the insertion of a valine (V) at the same site (PMID: 15064718). D32_I35delinsV has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 D32_S33del deletion unknown CTNNB1 D32_S33del results in the deletion of two amino acids of the Ctnnb1 protein from amino acids 32 to 33 (UniProt.org). D32_S33del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 D32_S37delinsA indel unknown CTNNB1 D32_S37delinsA results in a deletion of six amino acids in the Ctnnb1 protein from amino acids 32 to 37, combined with the insertion of an alanine (A) at the same site (UniProt.org). D32_S37delinsA has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 D712N missense unknown CTNNB1 D712N does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). D712N has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 E15K missense unknown CTNNB1 E15K lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). E15K has been identified in the scientific literature (PMID: 20717765, PMID: 31841566), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 E396D missense unknown CTNNB1 E396D does not lie within any functional domains of the Ctnnb1 protein (UniProt.org). E396D has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 E462K missense unknown CTNNB1 E462K lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). E462K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 G34_S71del deletion unknown CTNNB1 G34_S71del results in the deletion of 38 amino acids of the Ctnnb1 protein from amino acids 34 to 71 (UniProt.org). G34_S71del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 G34L missense unknown CTNNB1 G34L lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). G34L has been identified in the scientific literature (PMID: 27334220), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 G367R missense unknown CTNNB1 G367R lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). G367R has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 G38_P44del deletion unknown CTNNB1 G38_P44del results in the deletion of seven amino acids in the negative regulatory region of the Ctnnb1 protein from amino acids 38 to 44 (PMID: 9065402). G38_P44del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 G38A missense unknown CTNNB1 G38A lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38A is associated with lack of Ctnnb1 expression in patient samples (PMID: 11520139), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 G38C missense unknown CTNNB1 G38C lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38C has been identified in the scientific literature (PMID: 27601661), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Dec 2025).
CTNNB1 G38D missense unknown CTNNB1 G38D lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38D is not associated with Ctnnb1 nuclear accumulation in patient samples (PMID: 10213482, PMID: 11559529), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown.
CTNNB1 G38V missense unknown CTNNB1 G38V lies within the negative regulatory region of the Ctnnb1 protein (PMID: 9065402). G38V has been identified in sequencing studies (PMID: 29451897, PMID: 32514293), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Aug 2025).
CTNNB1 G50D missense unknown CTNNB1 G50D does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G50D has been identified in the scientific literature (PMID: 12824925, PMID: 9515795, PMID: 21060032), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 G69A missense unknown CTNNB1 G69A does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). G69A has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 H24_H36del deletion unknown CTNNB1 H24_H36del results in the deletion of 13 amino acids of the Ctnnb1 protein from amino acids 24 to 36 (UniProt.org). H24_H36del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 H24_Y142del deletion unknown CTNNB1 H24_Y142del results in the deletion of 119 amino acids of the Ctnnb1 protein from amino acids 24 to 142 (UniProt.org). H24_Y142del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 H24P missense unknown CTNNB1 H24P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). H24P has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jun 2025).
CTNNB1 I140N missense unknown CTNNB1 I140N does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). I140N has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 I35_G38del deletion unknown CTNNB1 I35_G38del results in the deletion of four amino acids in the Ctnnb1 protein from amino acids 35 to 38 (UniProt.org). I35_G38del has been identified in sequencing studies (PMID: 35359182, PMID: 32561076, PMID: 17187432), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 I35del deletion unknown CTNNB1 I35del results in the deletion of an amino acid in the Ctnnb1 protein at amino acid 35 (UniProt.org). I35del has been identified in sequencing studies (PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 I35V missense unknown CTNNB1 I35V lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). I35V has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 K292E missense unknown CTNNB1 K292E lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). K292E has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 K292T missense unknown CTNNB1 K292T lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). K292T has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 K354Q missense unknown CTNNB1 K354Q lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K354Q has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 K354T missense unknown CTNNB1 K354T lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). K354T has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 L10_N141del deletion unknown CTNNB1 L10_N141del results in the deletion of 132 amino acids in the Ctnnb1 protein from amino acids 10 to 141 (UniProt.org). L10_N141del has been identified in sequencing studies (PMID: 12297840), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 L31_I35del deletion unknown CTNNB1 L31_I35del results in the deletion of five amino acids in the Ctnnb1 protein from amino acids 31 to 35 (UniProt.org). L31_I35del has been identified in the scientific literature (PMID: 31320640), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 L31_S33del deletion unknown CTNNB1 L31_S33del results in the deletion of three amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 31 to 33 (PMID: 15064718). L31_S33del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jun 2025).
CTNNB1 L31_S37del deletion unknown CTNNB1 L31_S37del results in the deletion of seven amino acids of the Ctnnb1 protein from amino acids 31 to 37 (UniProt.org). L31_S37del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Apr 2026).
CTNNB1 L31M missense unknown CTNNB1 L31M does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). L31M has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 L405F missense unknown CTNNB1 L405F lies within ARM repeat 7 of the Ctnnb1 protein (UniProt.org). L405F has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 M12_D144del deletion unknown CTNNB1 M12_D144del results in the deletion of 133 amino acids in the Ctnnb1 protein from amino acids 12 to 144 (UniProt.org). M12_D144del has been identified in sequencing studies (PMID: 27939373, PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 M553V missense unknown CTNNB1 M553V lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). M553V has been identified in sequencing studies (PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 M8_L132del deletion unknown CTNNB1 M8_L132del results in the deletion of 125 amino acids of the Ctnnb1 protein from amino acids 8 to 132 (UniProt.org). M8_L132del has been identified in sequencing studies (PMID: 24413733, PMID: 27939373, PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 N287S missense unknown CTNNB1 N287S lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). N287S has been identified in the scientific literature (PMID: 36083290, PMID: 19898734, PMID: 22006429), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 N387I missense unknown CTNNB1 N387I lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387I has been identified in sequencing studies (PMID: 29937994, PMID: 31560893), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 N387Y missense unknown CTNNB1 N387Y lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). N387Y has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 N415H missense unknown CTNNB1 N415H lies within ARM repeat 7 of the Ctnnb1 protein (UniProt.org). N415H has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 P16_K133del deletion unknown CTNNB1 P16_K133del results in the deletion of 118 amino acids in the Ctnnb1 protein from amino acids 16 to 133 (UniProt.org). P16_K133del has been identified in sequencing studies (PMID: 10487827), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 P16S missense unknown CTNNB1 P16S lies within the VCL-interacting region of the the Ctnnb1 protein (UniProt.org). P16S has been identified in the scientific literature (PMID: 25393105, PMID: 25148578, PMID: 27146902), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 P44_S60del deletion unknown CTNNB1 P44_S60del results in the deletion of 17 amino acids of the Ctnnb1 protein from amino acids 44 to 60 (UniProt.org). P44_S60del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 P44H missense unknown CTNNB1 P44H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44H has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 P44S missense gain of function - predicted CTNNB1 P44S does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44S is predicted to confer a gain of function to the Ctnnb1 protein as demosntrated by reduced phosphorylation of a Ctnnb1 peptide in an in vitro assay (PMID: 12925738).
CTNNB1 P52H missense unknown CTNNB1 P52H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P52H has been identified in the scientific literature (PMID: 37593116), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Q26_D32delinsH indel unknown CTNNB1 Q26_D32delinsH results in the deletion of seven amino acids within the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 26 to 32, combined with the insertion of a histidine (H) at the same site (PMID: 15064718). Q26_D32delinsH has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Q28_D32delinsH indel unknown CTNNB1 Q28_D32delinsH results in a deletion of five amino acids within the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 28 to 32, combined with the insertion of a histidine (H) at the same site (PMID: 15064718). Q28_D32delinsH has been identified in sequencing studies (PMID: 26822237), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Q302H missense unknown CTNNB1 Q302H lies within ARM repeat 4 of the Ctnnb1 protein (UniProt.org). Q302H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Q322K missense unknown CTNNB1 Q322K lies within ARM repeat 5 of the Ctnnb1 protein (UniProt.org). Q322K has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Q703H missense unknown CTNNB1 Q703H does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). Q703H has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R18_R151delinsS indel unknown CTNNB1 R18_R151delinsS results in a deletion of 134 amino acids of the Ctnnb1 protein from aa 18 to aa 151, combined with the insertion of serine (S) at the same site (UniProt.org). R18_R151delinsS has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R453L missense unknown CTNNB1 R453L lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). R453L has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R453Q missense unknown CTNNB1 R453Q lies within ARM repeat 8 of the Ctnnb1 protein (UniProt.org). R453Q has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R515Q missense unknown CTNNB1 R515Q lies within ARM repeat 9 of the Ctnnb1 protein (UniProt.org). R515Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R535Q missense unknown CTNNB1 R535Q lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). R535Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R542H missense unknown CTNNB1 R542H lies within ARM repeat 10 of the Ctnnb1 protein (UniProt.org). R542H has been identified in sequencing studies (PMID: 27696107, PMID: 29500272), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R582P missense unknown CTNNB1 R582P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R582P has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R587Q missense unknown CTNNB1 R587Q does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R587Q has been identified in sequencing studies (PMID: 29937994, PMID: 29107334, PMID: 33021522), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 R717C missense unknown CTNNB1 R717C does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). R717C has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S23_S33del deletion unknown CTNNB1 S23_S33del results in the deletion of 11 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 23 to 33 (PMID: 15064718). S23_S33del has been identified in sequencing studies (PMID: 33569316, PMID: 11309340), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S23G missense no effect - predicted CTNNB1 S23G lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (PMID: 12027456). S23G results in similar transcriptional activation of cyclinD1 compared to wild-type Ctnnb1 in cell culture (PMID: 12049819), and therefore, is predicted to have no effect on Ctnnb1 protein function.
CTNNB1 S29Y missense unknown CTNNB1 S29Y lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (PMID: 12027456). S29Y has been identified in sequencing studies (PMID: 16356174), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jun 2025).
CTNNB1 S33_A39del deletion unknown CTNNB1 S33_A39del results in the deletion of seven amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 33 to 39 (PMID: 15064718). S33_A39del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S33L missense unknown CTNNB1 S33L lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33L has been identified in the scientific literature (PMID: 32099073), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S33T missense unknown CTNNB1 S33T lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). S33T has been identified in the scientific literature (PMID: 32099073, PMID: 37593116), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S37P missense unknown CTNNB1 S37P lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 10347231). S37P has been identified in the scientific literature (PMID: 11950921, PMID: 30699286, PMID: 35053583), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S37T missense unknown CTNNB1 S37T lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 10347231). S37T has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S45_L46insTSS insertion unknown CTNNB1 S45_L46insTSS results in the insertion of three amino acids in the Ctnnb1 protein between amino acids 45 and 46 (UniProt.org). S45_L46insTSS has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S45_P52del deletion unknown CTNNB1 S45_P52del results in the deletion of eight amino acids of the Ctnnb1 protein from amino acids 45 to 52 (UniProt.org). S45_P52del has been identified in sequencing studies (PMID: 39154782), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S45_V57del deletion unknown CTNNB1 S45_V57del results in the deletion of 13 amino acids of the Ctnnb1 protein from amino acids 45 to 57 (UniProt.org). S45_V57del has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S45N missense unknown CTNNB1 S45N lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). S45N has been identified in the scientific literature (PMID: 26998061, PMID: 26414222), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S45T missense unknown CTNNB1 S45T lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). S45T has been identified in the scientific literature (PMID: 32099073, PMID: 32590455), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S47L missense unknown CTNNB1 S47L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). S47L has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 S73P missense unknown CTNNB1 S73P does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). S73P has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T257I missense unknown CTNNB1 T257I lies within ARM repeat 3 of the Ctnnb1 protein (UniProt.org). T257I has been identified in the scientific literature (PMID: 25859559, PMID: 27334835, PMID: 26822237), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T3_A126del deletion unknown CTNNB1 T3_A126del results in the deletion of 124 amino acids of the Ctnnb1 protein from amino acids 3 to 126 (UniProt.org). T3_A126del has been identified in the scientific literature (PMID: 16496320, PMID: 24735922, PMID: 27939373), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T40S missense unknown CTNNB1 T40S does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T40S has been identified in sequencing studies (PMID: 22744289, PMID: 35053583), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T41_P52del deletion unknown CTNNB1 T41_P52del results in the deletion of 12 amino acids of the Ctnnb1 protein from amino acids 41 to 52 (UniProt.org). T41_P52del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T41_S45del deletion unknown CTNNB1 T41_S45del results in the deletion of five amino acids of the Ctnnb1 protein from amino acids 41 to 45 (UniProt.org). T41_S45del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T41_S47del deletion unknown CTNNB1 T41_S47del results in the deletion of seven amino acids of the Ctnnb1 protein from amino acids 41 to 47 (UniProt.org). T41_S47del has not been characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T41N missense unknown CTNNB1 T41N lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41N has been identified in the scientific literature (PMID: 27389594, PMID: 18757411, PMID: 34534321), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T41P missense unknown CTNNB1 T41P lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41P has been identified in the scientific literature (PMID: 34534321, PMID: 29224720, PMID: 32514293), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T41S missense unknown CTNNB1 T41S lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41S has been identified in sequencing studies (PMID: 11329142), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T42_A43insSS insertion unknown CTNNB1 T42_A43insSS results in the insertion of two serines (S) within a phosphorylation cluster required for degradation of the Ctnnb1 protein between amino acids 42 and 43 (PMID: 23169527). T42_A43insSS has been identified in sequencing studies (PMID: 25822088, PMID: 22561517), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T42_K49del deletion unknown CTNNB1 T42_K49del results in the deletion of eight amino acids of the Ctnnb1 protein from amino acids 42 to 49 (UniProt.org). T42_K49del has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T42I missense unknown CTNNB1 T42I does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T42I has been identified in sequencing studies (PMID: 25012536, PMID: 28377483, PMID: 25656989), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T42K missense unknown CTNNB1 T42K does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T42K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 T42R missense unknown CTNNB1 T42R does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). T42R has been identified in sequencing studies (PMID: 18715618), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V199I missense unknown CTNNB1 V199I lies within ARM repeat 2 of the Ctnnb1 protein (UniProt.org). V199I has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22_A97del deletion unknown CTNNB1 V22_A97del results in the deletion of 76 amino acids of the Ctnnb1 protein from amino acids 22 to 97 (UniProt.org). V22_A97del has been identified in sequencing studies (PMID: 24413733, PMID: 27939373, PMID: 24735922), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22_D145del deletion unknown CTNNB1 V22_D145del results in the deletion of 124 amino acids of the Ctnnb1 protein from amino acids 22 to 145 (UniProt.org). V22_D145del has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22_G38del deletion unknown CTNNB1 V22_G38del results in the deletion of 17 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 22 to 38 (PMID: 15064718). V22_G38del has been identified in sequencing studies (PMID: 11282485, PMID: 25157968), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22_S33del deletion unknown CTNNB1 V22_S33del results in the deletion of 12 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 22 to 33 (UniProt.org). V22_S33del has been identified in sequencing studies (PMID: 11309340), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22_Y64del deletion unknown CTNNB1 V22_Y64del results in the deletion of 43 amino acids of the Ctnnb1 protein from amino acids 22 to 64 (UniProt.org). V22_Y64del has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22G missense unknown CTNNB1 V22G lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). V22G has been identified in sequencing studies (PMID: 20923573, PMID: 22653804, PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 V22I missense unknown CTNNB1 V22I lies within the VCL-interacting region of the Ctnnb1 protein (UniProt.org). V22I has been identified in sequencing studies (PMID: 20696052, PMID: 27146902), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 W25L missense unknown CTNNB1 W25L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). W25L has been identified in sequencing studies (PMID: 27248174, PMID: 12067995), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 W383C missense unknown CTNNB1 W383C lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383C has been identified in sequencing studies (PMID: 26416732, PMID: 25021421, PMID: 32592321), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 W383K missense unknown CTNNB1 W383K lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383K has not been characterized in the scientific literature and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 W383S missense unknown CTNNB1 W383S lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383S has been identified in the scientific literature (PMID: 34725446, PMID: 31336886), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Y30_S33del deletion unknown CTNNB1 Y30_S33del results in the deletion of four amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 30 to 33 (PMID: 15064718). Y30_S33del has been identified in the scientific literature (PMID: 28551672), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jan 2026).
CTNNB1 Y670* nonsense loss of function - predicted CTNNB1 Y670* results in a premature truncation of the Ctnnb1 protein at amino acid 670 of 781 (UniProt.org). Y670* has not been characterized however, due to the effects of other truncation mutations downstream of Y670 (PMID: 27368802), is predicted to lead to a loss of Ctnnb1 protein function.
DNMT3A A121S missense unknown DNMT3A A121S does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). A121S has been identified in the scientific literature (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Apr 2026).
DNMT3A A376T missense unknown DNMT3A A376T lies within the DNMT1 and DNMT3B-interacting region of the Dnmt3a protein (UniProt.org). A376T has been identified in the scientific literature (PMID: 23300180), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Apr 2026).
DNMT3A C911Y missense unknown DNMT3A C911Y lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (Uniprot.org). C911Y has been identified in sequencing studies (PMID: 22722750, PMID: 36912186), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A D811Y missense unknown DNMT3A D811Y lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). D811Y has been identified in the scientific literature (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A D876G missense loss of function DNMT3A D876G lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). D876G disrupts Dnmt3a tetramer formation and leads to decreased Dnmt3a activity in in vitro assays (PMID: 22722925).
DNMT3A E664K missense unknown DNMT3A E664K lies within the SAM-dependent MTase C5-type domain of the Dnmt3A protein (UniProt.org). E664K has been identified in sequencing studies (PMID: 22749068, PMID: 31004019, PMID: 32269971), but has not been biochemically characterized and therefore, its effect on Dnmt3A protein function is unknown (PubMed, Dec 2025).
DNMT3A F868S missense unknown DNMT3A F868S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). F868S has been identified in sequencing studies (PMID: 28634182, PMID: 33255857, PMID: 38359296), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A F909C missense loss of function - predicted DNMT3A F909C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). F909C results in decreased Dnmt3a stability and reduced methyltransferase activity in cell culture (PMID: 34429321), and therefore, is predicted to lead to a loss of Dnmt3a protein function.
DNMT3A G104E missense unknown DNMT3A G104E does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). G104E has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A G302del deletion unknown DNMT3A G302del results in the deletion of an amino acid in the PWWP domain of the Dnmt3a protein at amino acid 302 (UniProt.org). G302del has been identified in the scientific literature (PMID: 24659740), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A G685E missense unknown DNMT3A G685E lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). G685E has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A G746V missense unknown DNMT3A G746V lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). G746V has been identified in the scientific literature (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A G890D missense unknown DNMT3A G890D lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). G890D has been identified in sequencing studies (PMID: 22749068, PMID: 25426838, PMID: 25426837), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A I643M missense unknown DNMT3A I643M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). I643M has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A K721R missense unknown DNMT3A K721R lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K721R has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A K841Q missense unknown DNMT3A K841Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). K841Q has been identified in sequencing studies (PMID: 21067377), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A M513I missense unknown DNMT3A M513I lies within the ADD domain of the Dnmt3a protein (UniProt.org). M513I has been identified in the scientific literature (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A M880I missense unknown DNMT3A M880I lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). M880I has been identified in the scientific literature (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A P569_A574del deletion unknown DNMT3A P569_A574del results in the deletion of six amino acids in the ADD domain of the Dnmt3a protein from amino acids 569 to 574 (UniProt.org). P569_A574del has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A P59L missense unknown DNMT3A P59L does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). P59L has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A P709S missense loss of function - predicted DNMT3A P709S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). P709S (corresponds to P705S in mouse) results in impaired global methylation and both decreased interaction with and inhibition of wild-type Dnmt3a in cell culture (PMID: 32856987), and therefore, is predicted to lead to a loss of Dnmt3a protein function.
DNMT3A Q485H missense unknown DNMT3A Q485H lies within the ADD domain of the Dnmt3a protein (UniProt.org). Q485H has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A Q886E missense unknown DNMT3A Q886E lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). Q886E has been identified in the scientific literature (PMID: 27276561, PMID: 23251566, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A R478Q missense unknown DNMT3A R478Q does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). R478Q has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A R556M missense unknown DNMT3A R556M lies within the ADD domain and PRC2/EED-EZH2 complex interacting region of the Dnmt3a protein (UniProt.org). R556M has been identified in sequencing studies (PMID: 31101826), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A R720C missense unknown DNMT3A R720C lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R720C has been identified in sequencing studies (PMID: 29872864), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Oct 2025).
DNMT3A R729Q missense unknown DNMT3A R729Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R729Q has been identified in the scientific literature (PMID: 21067377, PMID: 28446434, PMID: 36219880), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A R771Q missense unknown DNMT3A R771Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R771Q increases methylation of both non-CpG and CpG substrates in an in vitro assay, however, results in a moderate decrease in global methylation in cultured embryonic stem cells (PMID: 30705090), does not lead to Dnmt3a instability (PMID: 34429321), and demonstrates decreased methylation activity in in vitro assays (PMID: 33826797, PMID: 34429321), and therefore, its effect on Dnmt3a protein function is unknown.
DNMT3A R792S missense unknown DNMT3A R792S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R792S has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A R831Q missense loss of function DNMT3A R831Q lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). R831Q is predicted to confer a loss of function to Dnmt3a, as indicated by decreased DNA binding and decreased methyltransferase activity in vitro of a Dnmt3a-Dnmt3l heterotetramer (PMID: 32083663).
DNMT3A S894R missense unknown DNMT3A S894R lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). S894R has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A V296M missense unknown DNMT3A V296M lies within the PWWP domain of the Dnmt3a protein (UniProt.org). V296M has been identified in sequencing studies (PMID: 28634182, PMID: 38167262, PMID: 30108064), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A V649M missense unknown DNMT3A V649M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V649M has been identified in sequencing studies (PMID: 34617422), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Apr 2026).
DNMT3A V785M missense unknown DNMT3A V785M lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). V785M has been identified in sequencing studies (PMID: 22490330), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Jun 2025).
DNMT3A W409C missense unknown DNMT3A W409C does not lie within any known functional domains of the Dnmt3a protein (UniProt.org). W409C has been identified in sequencing studies (PMID: 36600554), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A Y528_S535dup duplication unknown DNMT3A Y528_S535dup indicates the insertion of 8 duplicate amino acids, tyrosine (Y)-528 through serine (S)-535 in the ADD domain of the Dnmt3a protein (UniProt.org). Y528_S535dup has not been characterized in the scientific literature and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
DNMT3A Y533C missense loss of function - predicted DNMT3A Y533C lies within the ADD domain of the Dnmt3a protein (UniProt.org). Y533C results in protein stability similar to wild-type Dnmt3a but decreased methyltransferase activity in cell culture (PMID: 34429321), and therefore, is predicted to lead to a loss of Dnmt3a protein function.
DNMT3A Y735S missense unknown DNMT3A Y735S lies within the SAM-dependent MTase C5-type domain of the Dnmt3a protein (UniProt.org). Y735S has been identified in the scientific literature (PMID: 26290145, PMID: 27149842, PMID: 34788385), but has not been biochemically characterized and therefore, its effect on Dnmt3a protein function is unknown (PubMed, Dec 2025).
FANCA A1097V missense unknown FANCA A1097V does not lie within any known functional domains of the Fanca protein (UniProt.org). A1097V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2025).
FANCA A181V missense unknown FANCA A181V does not lie within any known functional domains of the Fanca protein (UniProt.org). A181V has been identified in sequencing studies (PMID: 24728327, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2025).
FANCA A403V missense unknown FANCA A403V does not lie within any known functional domains of the Fanca protein (UniProt.org). A403V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2025).
FANCA A40E missense unknown FANCA A40E does not lie within any known functional domains of the Fanca protein (UniProt.org). A40E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2025).
FANCA A412V missense unknown FANCA A412V does not lie within any known functional domains of the Fanca protein (UniProt.org). A412V has been identified in the scientific literature (PMID: 14695169, PMID: 28690523, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2026).
FANCA A444V missense unknown FANCA A444V does not lie within any known functional domains of the Fanca protein (UniProt.org). A444V has been identified in sequencing studies (PMID: 24390348, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA A47P missense unknown FANCA A47P does not lie within any known functional domains of the Fanca protein (UniProt.org). A47P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA A586T missense unknown FANCA A586T does not lie within any known functional domains of the Fanca protein (UniProt.org). A586T has not been characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2026).
FANCA A786V missense unknown FANCA A786V does not lie within any known functional domains of the Fanca protein (UniProt.org). A786V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA A980G missense unknown FANCA A980G does not lie within any known functional domains of the Fanca protein (UniProt.org). A980G has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA C422Y missense unknown FANCA C422Y does not lie within any known functional domains of the Fanca protein (UniProt.org). C422Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA C625S missense unknown FANCA C625S does not lie within any known functional domains of the Fanca protein (UniProt.org). C625S has been identified in the scientific literature (PMID: 23021409, PMID: 21273304, PMID: 28717660), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jul 2025).
FANCA D694Y missense unknown FANCA D694Y does not lie within any known functional domains of the Fanca protein (UniProt.org). D694Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA D931H missense unknown FANCA D931H does not lie within any known functional domains of the Fanca protein (UniProt.org). D931H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E1015K missense unknown FANCA E1015K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1015K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E1115K missense unknown FANCA E1115K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1115K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E1214Q missense unknown FANCA E1214Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E1214Q has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E1252K missense unknown FANCA E1252K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1252K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E1351Q missense unknown FANCA E1351Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E1351Q has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E38K missense unknown FANCA E38K does not lie within any known functional domains of the Fanca protein (UniProt.org). E38K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA E526Q missense unknown FANCA E526Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E526Q has been identified in sequencing studies (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E542A missense unknown FANCA E542A does not lie within any known functional domains of the Fanca protein (UniProt.org). E542A has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA E682Q missense unknown FANCA E682Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E682Q has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2026).
FANCA E698K missense unknown FANCA E698K does not lie within any known functional domains of the Fanca protein (UniProt.org). E698K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA F1261L missense unknown FANCA F1261L does not lie within any known functional domains of the Fanca protein (UniProt.org). F1261L has been identified in sequencing studies (PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2026).
FANCA F320L missense unknown FANCA F320L does not lie within any known functional domains of the Fanca protein (UniProt.org). F320L has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA F476L missense unknown FANCA F476L does not lie within any known functional domains of the Fanca protein (UniProt.org). F476L has been identified in sequencing studies (PMID: 22810696, PMID: 33754015), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA G1039D missense unknown FANCA G1039D does not lie within any known functional domains of the Fanca protein (UniProt.org). G1039D has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA G115R missense unknown FANCA G115R does not lie within any known functional domains of the Fanca protein (UniProt.org). G115R has been identified in sequencing studies (PMID: 33685866), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA G501S missense unknown FANCA G501S does not lie within any known functional domains of the Fanca protein (UniProt.org). G501S is a common Fanca polymorphism (PMID: 19012493, PMID: 14749703, PMID: 25885250), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2026).
FANCA G804S missense unknown FANCA G804S does not lie within any known functional domains of the Fanca protein (UniProt.org). G804S has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA G809D missense unknown FANCA G809D does not lie within any known functional domains of the Fanca protein (UniProt.org). G809D has been identified in the scientific literature (PMID: 19012493, PMID: 14695169, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Sep 2025).
FANCA H1355L missense unknown FANCA H1355L does not lie within any known functional domains of the Fanca protein (UniProt.org). H1355L has been identified in sequencing studies (PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA I1300M missense unknown FANCA I1300M does not lie within any known functional domains of the Fanca protein (UniProt.org). I1300M has been identified in sequencing studies (PMID: 22037554, PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA K1283R missense unknown FANCA K1283R does not lie within any known functional domains of the Fanca protein (UniProt.org). K1283R has been identified in the scientific literature (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA K143N missense unknown FANCA K143N does not lie within any known functional domains of the Fanca protein (UniProt.org). K143N has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA K453N missense unknown FANCA K453N does not lie within any known functional domains of the Fanca protein (UniProt.org). K453N has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA K522R missense unknown FANCA K522R does not lie within any known functional domains of the Fanca protein (UniProt.org). K522R demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture, however, the genomic change (c.1565A>G) leads to skipping of exon 16 which is predicted to result in an in-frame deletion of 32 amino acids of the Fanca protein in a Fanconi anemia patient sample (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown.
FANCA L1075P missense unknown FANCA L1075P lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1075P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L1082F missense unknown FANCA L1082F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1082F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L1211I missense unknown FANCA L1211I does not lie within any known functional domains of the Fanca protein (UniProt.org). L1211I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L1249V missense unknown FANCA L1249V does not lie within any known functional domains of the Fanca protein (UniProt.org). L1249V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L1320del deletion unknown FANCA L1320del results in the deletion of an amino acid in the Fanca protein at amino acid 1320 (UniProt.org). L1320del has been identified in sequencing studies (PMID: 27748766, PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA L1401V missense unknown FANCA L1401V does not lie within any known functional domains of the Fanca protein (UniProt.org). L1401V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L185I missense unknown FANCA L185I does not lie within any known functional domains of the Fanca protein (UniProt.org). L185I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L51M missense unknown FANCA L51M does not lie within any known functional domains of the Fanca protein (UniProt.org). L51M has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L864I missense unknown FANCA L864I does not lie within any known functional domains of the Fanca protein (UniProt.org). L864I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA L908P missense unknown FANCA L908P does not lie within any known functional domains of the Fanca protein (UniProt.org). L908P has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA M1077I missense unknown FANCA M1077I lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). M1077I has been identified in sequencing studies (PMID: 22820256), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA M160I missense unknown FANCA M160I does not lie within any known functional domains of the Fanca protein (UniProt.org). M160I has been identified in sequencing studies (PMID: 20668451, PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA M717I missense unknown FANCA M717I does not lie within any known functional domains of the Fanca protein (UniProt.org). M717I has been identified in the scientific literature (PMID: 10094191, PMID: 28423517, PMID: 27882345), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA N1003H missense unknown FANCA N1003H does not lie within any known functional domains of the Fanca protein (UniProt.org). N1003H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P1175L missense unknown FANCA P1175L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1175L has been identified in sequencing studies (PMID: 29338072, PMID: 25231023), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P1222L missense unknown FANCA P1222L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1222L is predicted to result in decreased flexibility of Fanca protein, potentially disrupting interaction with other proteins in computational models (PMID: 33762291), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA P496S missense unknown FANCA P496S does not lie within any known functional domains of the Fanca protein (UniProt.org). P496S has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P497L missense unknown FANCA P497L does not lie within any known functional domains of the Fanca protein (UniProt.org). P497L has not been characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P500A missense unknown FANCA P500A does not lie within any known functional domains of the Fanca protein (UniProt.org). P500A has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P643A missense unknown FANCA P643A does not lie within any known functional domains of the Fanca protein (UniProt.org). P643A has been identified in the scientific literature (PMID: 28690523, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P774R missense unknown FANCA P774R does not lie within any known functional domains of the Fanca protein (UniProt.org). P774R has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA P808S missense unknown FANCA P808S does not lie within any known functional domains of the Fanca protein (UniProt.org). P808S has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA Q1307Sfs*6 frameshift unknown FANCA Q1307Sfs*6 indicates a shift in the reading frame starting at amino acid 1307 and terminating 6 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q1307Sfs*6 has been identified in the scientific literature (PMID: 36181052), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA Q168E missense unknown FANCA Q168E does not lie within any known functional domains of the Fanca protein (UniProt.org). Q168E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA Q174H missense unknown FANCA Q174H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q174H demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture, however, the genomic change (c.522G>C) leads to skipping of exon 5 which is predicted to result in an in-frame deletion of 32 amino acids of the Fanca protein in a Fanconi anemia patient sample (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA Q226H missense unknown FANCA Q226H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q226H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA Q382E missense unknown FANCA Q382E does not lie within any known functional domains of the Fanca protein (UniProt.org). Q382E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA Q382H missense unknown FANCA Q382H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q382H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA R1011H missense unknown FANCA R1011H does not lie within any known functional domains of the Fanca protein (UniProt.org). R1011H has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1053C missense unknown FANCA R1053C does not lie within any known functional domains of the Fanca protein (UniProt.org). R1053C has been identified in sequencing studies (PMID: 28678401, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1054* nonsense loss of function - predicted FANCA R1054* results in a premature truncation of the Fanca protein at amino acid 1054 of 1455 (UniProt.org). R1054* has not been characterized, however, due to the effects of other truncation mutations downstream of R1054 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
FANCA R1055G missense unknown FANCA R1055G does not lie within any known functional domains of the Fanca protein (UniProt.org). R1055G has been identified in the scientific literature (PMID: 28717661), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1084C missense unknown FANCA R1084C lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). R1084C has been identified in sequencing studies (PMID: 30050716, PMID: 24755471, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1186K missense unknown FANCA R1186K does not lie within any known functional domains of the Fanca protein (UniProt.org). R1186K has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1186M missense unknown FANCA R1186M does not lie within any known functional domains of the Fanca protein (UniProt.org). R1186M has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1204W missense unknown FANCA R1204W does not lie within any known functional domains of the Fanca protein (UniProt.org). R1204W has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R1425C missense unknown FANCA R1425C does not lie within any known functional domains of the Fanca protein (UniProt.org). R1425C has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R163H missense unknown FANCA R163H does not lie within any known functional domains of the Fanca protein (UniProt.org). R163H has been identified in sequencing studies (PMID: 28678401, PMID: 27334835, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R52L missense unknown FANCA R52L does not lie within any known functional domains of the Fanca protein (UniProt.org). R52L has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R52P missense unknown FANCA R52P does not lie within any known functional domains of the Fanca protein (UniProt.org). R52P has been identified in sequencing studies (PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R683I missense unknown FANCA R683I does not lie within any known functional domains of the Fanca protein (UniProt.org). R683I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA R685K missense unknown FANCA R685K does not lie within any known functional domains of the Fanca protein (UniProt.org). R685K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA S1094G missense unknown FANCA S1094G does not lie within any known functional domains of the Fanca protein (UniProt.org). S1094G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA S1264Y missense unknown FANCA S1264Y does not lie within any known functional domains of the Fanca protein (UniProt.org). S1264Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, May 2026).
FANCA S1416L missense unknown FANCA S1416L does not lie within any known functional domains of the Fanca protein (UniProt.org). S1416L has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA S421N missense unknown FANCA S421N does not lie within any known functional domains of the Fanca protein (UniProt.org). S421N has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA S455F missense unknown FANCA S455F does not lie within any known functional domains of the Fanca protein (UniProt.org). S455F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA S46P missense unknown FANCA S46P does not lie within any known functional domains of the Fanca protein (UniProt.org). S46P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA S545I missense unknown FANCA S545I does not lie within any known functional domains of the Fanca protein (UniProt.org). S545I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jun 2025).
FANCA S616Y missense unknown FANCA S616Y does not lie within any known functional domains of the Fanca protein (UniProt.org). S616Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA S734F missense unknown FANCA S734F does not lie within any known functional domains of the Fanca protein (UniProt.org). S734F has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA S892F missense unknown FANCA S892F does not lie within any known functional domains of the Fanca protein (UniProt.org). S892F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA T1161M missense unknown FANCA T1161M does not lie within any known functional domains of the Fanca protein (UniProt.org). T1161M has been identified in the scientific literature (PMID: 26674132, PMID: 26981779, PMID: 27489289), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA T256I missense unknown FANCA T256I does not lie within any known functional domains of the Fanca protein (UniProt.org). T256I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA T266A missense unknown FANCA T266A does not lie within any known functional domains of the Fanca protein (UniProt.org). T266A has been identified in the scientific literature (PMID: 19012493, PMID: 28202063, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2025).
FANCA T266M missense unknown FANCA T266M does not lie within any known functional domains of the Fanca protein (UniProt.org). T266M has been identified in sequencing studies (PMID: 25266736, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA T949N missense unknown FANCA T949N does not lie within any known functional domains of the Fanca protein (UniProt.org). T949N has been identified in sequencing studies (PMID: 27491810), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA V1112F missense unknown FANCA V1112F does not lie within any known functional domains of the Fanca protein (UniProt.org). V1112F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
FANCA V1180L missense unknown FANCA V1180L does not lie within any known functional domains of the Fanca protein (UniProt.org). V1180L has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2026).
FANCA V580M missense unknown FANCA V580M does not lie within any known functional domains of the Fanca protein (UniProt.org). V580M has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA V677M missense unknown FANCA V677M does not lie within any known functional domains of the Fanca protein (UniProt.org). V677M has been identified in sequencing studies (PMID: 28767289, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCA V888I missense unknown FANCA V888I does not lie within any known functional domains of the Fanca protein (UniProt.org). V888I has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Nov 2025).
FANCL A51T missense unknown FANCL A51T does not lie within any known functional domains of the Fancl protein (UniProt.org). A51T has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL C307G missense unknown FANCL C307G lies within the RING-type zinc finger domain of the Fnacl protein (UniProt.org). C307G has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Apr 2026).
FANCL D35Y missense unknown FANCL D35Y does not lie within any known functional domains of the Fancl protein (UniProt.org). D35Y has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL F36L missense unknown FANCL F36L does not lie within any known functional domains of the Fancl protein (UniProt.org). F36L has been identified in sequencing studies (PMID: 30301958), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL G27V missense unknown FANCL G27V does not lie within any known functional domains of the Fancl protein (UniProt.org). G27V has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL G317S missense unknown FANCL G317S lies within the RING-type zinc finger domain of the Fancl protein (UniProt.org). G317S has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL H375R missense unknown FANCL H375R does not lie within any known functional domains of the Fancl protein (UniProt.org). H375R has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL I136V missense unknown FANCL I136V lies within the UBC-RWD region of the Fancl protein (UniProt.org). I136V results in improper folding of Fancl protein in an in vitro assay (PMID: 32420600), but has not been fully biochemically characterized and therefore, its effect on Fancl protein function is unknown.
FANCL L38F missense unknown FANCL L38F does not lie within any known functional domains of the Fancl protein (UniProt.org). L38F has been identified in sequencing studies (PMID: 29891941, PMID: 28881617), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL M305V missense unknown FANCL M305V does not lie within any known functional domains of the Fancl protein (UniProt.org). M305V has not been characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL Q71H missense unknown FANCL Q71H does not lie within any known functional domains of the Fancl protein (UniProt.org). Q71H has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL Q99H missense unknown FANCL Q99H does not lie within any known functional domains of the Fancl protein (UniProt.org). Q99H has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL R10G missense unknown FANCL R10G does not lie within any known functional domains of the Fancl protein (UniProt.org). R10G has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Apr 2026).
FANCL R68P missense unknown FANCL R68P does not lie within any known functional domains of the Fancl protein (UniProt.org). R68P has been identified in sequencing studies (PMID: 28881617, PMID: 25550361, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL R68Q missense unknown FANCL R68Q does not lie within any known functional domains of the Fancl protein (UniProt.org). R68Q has been identified in the scientific literature (PMID: 37197634), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL R73I missense unknown FANCL R73I does not lie within any known functional domains of the Fancl protein (UniProt.org). R73I has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL S301F missense unknown FANCL S301F does not lie within any known functional domains of the Fancl protein (UniProt.org). S301F has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FANCL T367I missense unknown FANCL T367I does not lie within any known functional domains of the Fancl protein (UniProt.org). T367I has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2026).
FBXW7 A481V missense unknown FBXW7 A481V lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). A481V has been identified in sequencing studies (PMID: 31754145), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 A503T missense unknown FBXW7 A503T lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). A503T has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 C386W missense unknown FBXW7 C386W lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). C386W has been identified in sequencing studies (PMID: 17457043), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D135Y missense unknown FBXW7 D135Y does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). D135Y has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D440N missense unknown FBXW7 D440N lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). D440N has been identified in the scientific literature (PMID: 16824748, PMID: 34094900), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D480Y missense unknown FBXW7 D480Y lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). D480Y has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D520G missense unknown FBXW7 D520G lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D520G has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D520H missense unknown FBXW7 D520H lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D520H has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D520N missense unknown FBXW7 D520N lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D520N has been identified in sequencing studies (PMID: 22810696, PMID: 24121792, PMID: 34074070), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D520V missense unknown FBXW7 D520V lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D520V has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D550Mfs*6 frameshift unknown FBXW7 D550Mfs*6 indicates a shift in the reading frame starting at amino acid 550 and terminating 6 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). D550Mfs*6 has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D560G missense unknown FBXW7 D560G lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). D560G has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D600H missense unknown FBXW7 D600H lies within WD repeat 6 of the Fbxw7 protein (UniProt.org). D600H has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 D600Y missense unknown FBXW7 D600Y lies within WD repeat 6 of the Fbxw7 protein (UniProt.org). D600Y has been identified in the scientific literature (PMID: 34815356, PMID: 33972391, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E113D missense unknown FBXW7 E113D does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). E113D has been identified in sequencing studies (PMID: 35770320, PMID: 29483209, PMID: 30959466), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E117del deletion unknown FBXW7 E117del results in the deletion of an amino acid in the Fbxw7 protein at amino acid 117 (UniProt.org). E117del has been identified in sequencing studies (PMID: 35770320, PMID: 27284958, PMID: 29134647), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E192A missense unknown FBXW7 E192A does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). E192A has been identified in the scientific literature (PMID: 35346215, PMID: 24586741), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E248D missense unknown FBXW7 E248D does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). E248D has not been characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E287D missense unknown FBXW7 E287D lies within the F-box domain of the Fbxw7 protein (UniProt.org). E287D has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E287K missense unknown FBXW7 E287K lies within the F-box domain of the Fbxw7 protein (UniProt.org). E287K has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E287Q missense unknown FBXW7 E287Q lies within the F-box domain of the Fbxw7 protein (UniProt.org). E287Q has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 E287V missense unknown FBXW7 E287V lies within the F-box domain of the Fbxw7 protein (UniProt.org). E287V has been identified in the scientific literature (PMID: 35008511), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G397D missense unknown FBXW7 G397D lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). G397D has been identified in the scientific literature (PMID: 14999283), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G411S missense unknown FBXW7 G411S lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). G411S has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G422C missense unknown FBXW7 G422C lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G422C has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Dec 2025).
FBXW7 G423A missense unknown FBXW7 G423A lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G423A has been identified in sequencing studies (PMID: 26670561), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G423R missense unknown FBXW7 G423R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G423R results in decreased degradation of Cyclin E1 and Cyclin E2 compared to wild-type Fbxw7 in culture (PMID: 35395208), but does not enhance xenograft tumor growth in animal models (PMID: 24838835), and therefore, its effect on Fbxw7 protein function is unknown.
FBXW7 G437E missense unknown FBXW7 G437E lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G437E has been identified in the scientific literature (PMID: 27879972, PMID: 30578081), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G437R missense unknown FBXW7 G437R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G437R has been identified in sequencing studies (PMID: 34975100, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G437V missense unknown FBXW7 G437V lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G437V has been identified in sequencing studies (PMID: 29316426, PMID: 28940304, PMID: 23263491), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G477S missense unknown FBXW7 G477S lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). G477S has been identified in the scientific literature (PMID: 19109228, PMID: 32775947), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Dec 2025).
FBXW7 G499Vfs*25 frameshift loss of function - predicted FBXW7 G499Vfs*25 indicates a shift in the reading frame starting at amino acid 499 and terminating 25 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). Due to the loss of multiple WD domains (UniProt.org), G499Vfs*25 is predicted to lead to a loss of Fbxw7 protein function.
FBXW7 G517E missense unknown FBXW7 G517E lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). G517E has been identified in the scientific literature (PMID: 27399335), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G579A missense unknown FBXW7 G579A does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). G579A has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G579W missense unknown FBXW7 G579W does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). G579W has been identified in the scientific literature (PMID: 24755471, PMID: 27399335), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G597E missense unknown FBXW7 G597E lies within WD repeat 6 of the Fbxw7 protein (UniProt.org). G597E has been identified in sequencing studies (PMID: 23415222), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G667fs frameshift unknown FBXW7 G667fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 667 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). G667fs has been identified in the scientific literature (PMID: 25562415), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 G670fs frameshift unknown FBXW7 G670fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 670 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). G670fs has been identified in sequencing studies (PMID: 26076459), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 H379R missense unknown FBXW7 H379R lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). H379R has been identified in sequencing studies (PMID: 22980976), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jun 2025).
FBXW7 H382N missense unknown FBXW7 H382N lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). H382N has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 H460Y missense unknown FBXW7 H460Y lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). H460Y has been identified in sequencing studies (PMID: 29029407, PMID: 25637035), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 H470P missense unknown FBXW7 H470P lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). H470P has been identified in the scientific literature (PMID: 18485478), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 H500D missense unknown FBXW7 H500D lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). H500D has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 H500R missense unknown FBXW7 H500R lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). H500R has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jun 2025).
FBXW7 H500Y missense unknown FBXW7 H500Y lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). H500Y has been identified in sequencing studies (PMID: 30578357), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 I563T missense unknown FBXW7 I563T lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). I563T has been identified in sequencing studies (PMID: 18772397), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 K167T missense unknown FBXW7 K167T does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). K167T has not been characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 K239Q missense unknown FBXW7 K239Q does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). K239Q has not been characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 K404E missense unknown FBXW7 K404E lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). K404E has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 L301P missense unknown FBXW7 L301P lies within the F-box domain of the Fbxw7 protein (UniProt.org). L301P has been identified in sequencing studies (PMID: 29604063), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 L320I missense unknown FBXW7 L320I lies within the F-box domain of the Fbxw7 protein (UniProt.org). L320I has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 P247T missense unknown FBXW7 P247T does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). P247T has not been characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 P285H missense unknown FBXW7 P285H lies within the F-box domain of the Fbxw7 protein (UniProt.org). P285H has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 P298L missense unknown FBXW7 P298L lies within the F-box domain of the Fbxw7 protein (UniProt.org). P298L has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 Q631* nonsense unknown FBXW7 Q631* results in a premature truncation of the Fbxw7 protein at amino acid 631 of 707 (UniProt.org). Q631* has been identified in sequencing studies (PMID: 24390348), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R14Q missense unknown FBXW7 R14Q does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R14Q has been identified in sequencing studies (PMID: 22810696, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R179C missense unknown FBXW7 R179C does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R179C has been identified in sequencing studies (PMID: 30239046, PMID: 27714650), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R179H missense unknown FBXW7 R179H does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R179H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R224L missense unknown FBXW7 R224L does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R224L has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R224Q missense unknown FBXW7 R224Q does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R224Q has been identified in sequencing studies (PMID: 29244145, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R367P missense unknown FBXW7 R367P does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R367P has been identified in sequencing studies (PMID: 24436047), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R393Q missense unknown FBXW7 R393Q lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). R393Q has been identified in the scientific literature (PMID: 31195063), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Dec 2025).
FBXW7 R441L missense unknown FBXW7 R441L lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). R441L has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R441Q missense unknown FBXW7 R441Q lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). R441Q has been identified in sequencing studies (PMID: 31109697, PMID: 35636041, PMID: 37240216), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R441W missense unknown FBXW7 R441W lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). R441W has been identified in sequencing studies (PMID: 28581676, PMID: 28249663), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R465G missense unknown FBXW7 R465G lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). R465G has been identified in the scientific literature (PMID: 34817806), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R465S missense unknown FBXW7 R465S lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). R465S has been identified in the scientific literature (Blood (2022) 140 (Supplement 1): 12293–12294), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Dec 2025).
FBXW7 R479S missense unknown FBXW7 R479S lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). R479S has been identified in sequencing studies (PMID: 23165447), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R505H missense unknown FBXW7 R505H lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505H has been identified in the scientific literature (PMID: 34817806), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R505P missense unknown FBXW7 R505P lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505P has been identified in sequencing studies (PMID: 17909001), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R505S missense unknown FBXW7 R505S lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505S is predicted to disrupt the substrate binding by structural modeling (PMID: 34817806), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R543fs frameshift unknown FBXW7 R543fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 543 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). R543fs has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 R689W missense loss of function - predicted FBXW7 R689W does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R689W results in increased levels of phosphorylated Rictor, Akt, Gsk, and p70s6 (PMID: 29963728), and decreased interaction with the T244 degron of Myc in the context of an F-box domain deletion in culture (PMID: 35089787), and therefore, is predicted to lead to a loss of Fbxw7 protein function.
FBXW7 S396N missense unknown FBXW7 S396N lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). S396N has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S398F missense unknown FBXW7 S398F lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). S398F has been identified in sequencing studies (PMID: 29996881, PMID: 37116140), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S426L missense unknown FBXW7 S426L lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). S426L has been identified in sequencing studies (PMID: 34663923), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S476I missense unknown FBXW7 S476I lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). S476I has been identified in sequencing studies (PMID: 38003302), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S476R missense unknown FBXW7 S476R lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). S476R has not been characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S516N missense unknown FBXW7 S516N lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). S516N has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S516R missense unknown FBXW7 S516R lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). S516R has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S546L missense unknown FBXW7 S546L lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). S546L has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S546P missense unknown FBXW7 S546P lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). S546P has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S558F missense unknown FBXW7 S558F lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). S558F has been identified in sequencing studies (PMID: 28467829, PMID: 28256603, PMID: 27852700), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S582L missense unknown FBXW7 S582L lies within WD repeat 6 of the Fbxw7 protein (UniProt.org). S582L has been identified in the scientific literature (PMID: 36702998, PMID: 38483988, PMID: 35346215), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S582P missense unknown FBXW7 S582P lies within WD repeat 6 of the Fbxw7 protein (UniProt.org). S582P has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S601F missense unknown FBXW7 S601F lies within WD repeat 6 of the Fbxw7 protein (UniProt.org). S601F has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S668fs frameshift unknown FBXW7 S668fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 668 of 707, likely resulting in premature truncation of the functional protein (UniProt.org). S668fs has been identified in sequencing studies (PMID: 26373574, PMID: 30412912, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S668Vfs*39 frameshift unknown FBXW7 S668Vfs*39 indicates a shift in the reading frame starting at amino acid 668 and terminating 39 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). S668Vfs*39 has been identified in the scientific literature (J Thorac Oncol 13:10, 2018 (suppl; abstr S524), PMID: 41312772), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 S86L missense unknown FBXW7 S86L does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). S86L has been identified in sequencing studies (PMID: 30503610, PMID: 31401123, PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T144R missense unknown FBXW7 T144R does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). T144R has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T15_G16insTP insertion unknown FBXW7 T15_G16insTP results in the insertion of two amino acids in the Fbxw7 protein between amino acids 15 and 16 (UniProt.org). T15_G16insTP has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T385I missense unknown FBXW7 T385I lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). T385I has been identified in sequencing studies (PMID: 27459628, PMID: 35554535), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T385K missense unknown FBXW7 T385K lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). T385K has been identified in sequencing studies (PMID: 28423505), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T385P missense unknown FBXW7 T385P lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). T385P has been identified in sequencing studies (PMID: 26802149), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T532I missense unknown FBXW7 T532I lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). T532I has been identified in sequencing studies (PMID: 26991699), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 T532P missense unknown FBXW7 T532P lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). T532P has been identified in sequencing studies (PMID: 25096233), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 V265I missense unknown FBXW7 V265I does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). V265I has been identified in sequencing studies (PMID: 21282377), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 V464E missense unknown FBXW7 V464E lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). V464E results in the loss of gene expression signature correlation with Myc downregulation compared to wild-type Fbxw7 in culture (PMID: 29195078), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown.
FBXW7 V464M missense unknown FBXW7 V464M lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). V464M has been identified in sequencing studies (PMID: 28424412, PMID: 30578081), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 V504I missense unknown FBXW7 V504I lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). V504I has been identified in sequencing studies (PMID: 17909001), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 W446C missense unknown FBXW7 W446C lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). W446C has been identified in sequencing studies (PMID: 28120820, PMID: 23103869, PMID: 31543384), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 W526L missense unknown FBXW7 W526L lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). W526L has not been characterized in the scientific literature and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 W526R missense unknown FBXW7 W526R lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). W526R has been identified in sequencing studies (PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 W606* nonsense unknown FBXW7 W606* results in a premature truncation of the Fbxw7 protein at amino acid 606 of 707 (UniProt.org). W606* has been identified in the scientific literature (PMID: 27870570), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 Y519C missense unknown FBXW7 Y519C lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). Y519C has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FBXW7 Y545* nonsense unknown FBXW7 Y545* results in a premature truncation of the Fbxw7 protein at amino acid 545 of 707 (UniProt.org). Y545* has been identified in the scientific literature (PMID: 34760892), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jan 2026).
FGFR1 A354V missense unknown FGFR1 A354V lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). A354V has been identified in the scientific literature (PMID: 37889382), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Nov 2025).
FGFR1 A431S missense unknown FGFR1 A431S lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). A431S has been identified in sequencing studies (PMID: 12738854), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 A626V missense unknown FGFR1 A626V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). A626V has been identified in sequencing studies (PMID: 29698444), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 C381R missense gain of function FGFR1 C381R lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381R is associated with increased phospho-Erk1/2 staining in a patient tumor sample (PMID: 30385747), increased proliferation and anchorage-independent colony formation in culture (PMID: 40526877), and the corresponding variant in an alternate isoform (C379R) demonstrates constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615).
FGFR1 D128Y missense unknown FGFR1 D128Y lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D128Y has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 D133dup duplication unknown FGFR1 D133dup indicates the insertion of the duplicate amino acid, aspartic acid (D)-133, in the extracellular domain of the Fgfr1 protein (UniProt.org). D133dup has been identified in sequencing studies (PMID: 37664946), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 D133E missense unknown FGFR1 D133E lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D133E has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 D165_D166del deletion unknown FGFR1 D165_D166del (corresponds to D132_D133del in the canonical isoform) results in the deletion of two amino acids in the extracellular domain of the Fgfr1 protein from amino acids 165 to 166 (UniProt.org). D165_D166del has been identified in sequencing studies (PMID: 36142267), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, May 2026).
FGFR1 D166del deletion unknown FGFR1 D166del (corresponds to D133del in the canonical isoform) results in the deletion of an amino acid in the extracellular domain of the Fgfr1 protein at amino acid 166 (UniProt.org). D166del has been identified in the scientific literature (PMID: 30239046, PMID: 29030356, PMID: 33033274), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Aug 2025).
FGFR1 D652G missense unknown FGFR1 D652G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). D652G has been identified in sequencing studies (PMID: 26920151, PMID: 32059187, PMID: 35836307), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 E334Q missense unknown FGFR1 E334Q lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). E334Q has been identified in sequencing studies (PMID: 25056374), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 E670G missense unknown FGFR1 E670G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). E670G has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 E765G missense unknown FGFR1 E765G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). E765G has been identified in the scientific literature (PMID: 34250399), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 G610D missense unknown FGFR1 G610D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G610D has been identified in the scientific literature (PMID: 36462464, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 G687R missense loss of function FGFR1 G687R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G687R results in decreased Fgfr1 expression in culture, decreased response to Fgf ligand in an in vitro assay, and decreased phosphorylation of Erk1/2 in culture (PMID: 32666525).
FGFR1 G687V missense unknown FGFR1 G687V lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). G687V has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 K517R missense unknown FGFR1 K517R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K517R results in reduced Fgfr1 SUMOylation in in vitro assays (PMID: 35733256), but has not been fully biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown.
FGFR1 K598N missense unknown FGFR1 K598N lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K598N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 K655I missense unknown FGFR1 K655I lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K655I has been identified in the scientific literature (PMID: 36639714, PMID: 39169587), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 K656D missense unknown FGFR1 K656D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656D has been identified in the scientific literature (PMID: 26920151, PMID: 24750136, PMID: 23817572), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 K687E missense unknown FGFR1 K687E (corresponds to K656E in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K687E has been identified in the scientific literature (PMID: 34250399, PMID: 35952322, PMID: 39917758), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 L573M missense unknown FGFR1 L573M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). L573M has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2025).
FGFR1 M456I missense unknown FGFR1 M456I lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). M456I has been identified in sequencing studies (PMID: 27320919, PMID: 27127140), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 M532T missense unknown FGFR1 M532T lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M532T has been identified in the scientific literature (PMID: 38986210, PMID: 36446043), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Nov 2025).
FGFR1 M563I missense unknown FGFR1 M563I (corresponds to M532I in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M563I has been identified in the scientific literature (PMID: 32622884), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 M563T missense unknown FGFR1 M563T (corresponds to M532T in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). M563T has been identified in the scientific literature (PMID: 34551969), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 N546D missense unknown FGFR1 N546D lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). N546D has been identified in the scientific literature (PMID: 32622884, PMID: 29728520, PMID: 40016412), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 P277L missense unknown FGFR1 P277L (corresponds to P366L in the canonical isoform) lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). P277L has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 P366L missense unknown FGFR1 P366L lies within the extracellular domain of the Fgfr1 protein (UniProt.org). P366L has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 R120H missense unknown FGFR1 R120H (corresponds to R209H in the canonical isoform) lies within the extracellular domain of the Fgfr1 protein (UniProt.org). R120H has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 R189H missense unknown FGFR1 R189H lies within Ig-like C2-type domain 2 of the Fgfr1 protein (UniProt.org). R189H has been identified in sequencing studies (PMID: 29106415, PMID: 30885352), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 R507H missense unknown FGFR1 R507H lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R507H has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 R576W missense unknown FGFR1 R576W lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R576W has been identified in sequencing studies (PMID: 16186508, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 R646L missense unknown FGFR1 R646L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). R646L has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 R78H missense unknown FGFR1 R78H lies within Ig-like C2-type domain 1 of the Fgfr1 protein (UniProt.org). R78H has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 S135F missense unknown FGFR1 S135F lies within the extracellular domain of the Fgfr1 protein (UniProt.org). S135F has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 S430F missense unknown FGFR1 S430F lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). S430F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 T658P missense unknown FGFR1 T658P lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). T658P has been identified in the scientific literature (PMID: 27608415, PMID: 23817572), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 V396I missense unknown FGFR1 V396I lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). V396I has been identified in sequencing studies (PMID: 30089904), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 V444A missense unknown FGFR1 V444A lies within the cytoplasmic domain of the Fgfr1 protein (UniProt.org). V444A has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 V561F missense unknown FGFR1 V561F lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V561F has been associated with resistance to FGFR inhibitors in culture (PMID: 34114373), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025). Y
FGFR1 V592M missense unknown FGFR1 V592M (corresponds to V561M in the canonical isoform) lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V592M has been identified in the scientific literature (PMID: 34250399), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 W4C missense unknown FGFR1 W4C does not lie within any known functional domains of the Fgfr1 protein (UniProt.org). W4C has been identified in the scientific literature (PMID: 34593528), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 W666R missense unknown FGFR1 W666R lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). W666R has not been characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR1 W684G missense unknown FGFR1 W684G lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). W684G has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Dec 2025).
FGFR2 A314D missense unknown FGFR2 A314D lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A314D has been identified in sequencing studies (PMID: 18552176), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 A315C missense unknown FGFR2 A315C lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A315C has not been characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 A315S missense unknown FGFR2 A315S lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A315S results in altered affinity for Fgfr ligands in in vitro assays when combined with S252L (PMID: 15282208), but has not been characterized individually and therefore, its effect on Fgfr2 protein function is unknown.
FGFR2 A315T missense unknown FGFR2 A315T lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A315T has been identified in the scientific literature (PMID: 17525745), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 A344G missense unknown FGFR2 A344G lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A344G has not been characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 A344P missense unknown FGFR2 A344P lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). A344P has not been characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 A553D missense unknown FGFR2 A553D lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). A553D has been predicted to affect Fgfr2 protein stability by structural modeling (PMID: 32859654), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 A97T missense unknown FGFR2 A97T lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). A97T has been identified in sequencing studies (PMID: 28581676, PMID: 18552176), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 C342F missense unknown FGFR2 C342F lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342F has been identified in sequencing studies (PMID: 11781872), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 C342S missense unknown FGFR2 C342S lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342S has not been characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 C492F missense unknown FGFR2 C492F (corresponds to C491F in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). C492F results in reduced Frs2 and Erk phosphorylation in the context of an FGFR2 fusion (PMID: 37843855) and confers resistance to FGFR inhibitors alone (PMID: 38437671) and in the context of FGFR2-PHGDH in culture (PMID: 37843855), but has not been individually characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025). Y
FGFR2 D138N missense unknown FGFR2 D138N lies within the extracellular domain of the Fgfr2 protein (UniProt.org). D138N has been identified in the scientific literature (PMID: 17360555), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D247Y missense unknown FGFR2 D247Y lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). D247Y has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D283N missense unknown FGFR2 D283N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). D283N has been identified in sequencing studies (PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D336N missense unknown FGFR2 D336N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). D336N has been identified in sequencing studies (PMID: 22810696, PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D479N missense unknown FGFR2 D479N lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). D479N has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D602E missense unknown FGFR2 D602E lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D602E has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D650Y missense unknown FGFR2 D650Y lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D650Y has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 D651H missense unknown FGFR2 D651H (corresponds to D650H in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D651H has been identified in the scientific literature (PMID: 39226398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E116K missense unknown FGFR2 E116K lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). E116K has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E160A missense unknown FGFR2 E160A lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). E160A is predicted to disrupt Fgfr2-heparan sulfate interaction and Fgfr dimerization based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E219K missense unknown FGFR2 E219K lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). E219K is predicted to disrupt Fgf- and heparin-induced Fgfr2 dimerization based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E470Q missense unknown FGFR2 E470Q lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). E470Q has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E574K missense unknown FGFR2 E574K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E574K has been identified in the scientific literature (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E636K missense unknown FGFR2 E636K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E636K is predicted to affect the kinase activity of Fgfr2 by structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 E777K missense unknown FGFR2 E777K lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). E777K has been identified in sequencing studies (PMID: 29107334), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 F276I missense unknown FGFR2 F276I lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). F276I has not been characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 F276V missense unknown FGFR2 F276V lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). F276V has been identified in sequencing studies (PMID: 24578066), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G227R missense unknown FGFR2 G227R lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniPort.org). G227R has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G272V missense unknown FGFR2 G272V lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). G272V has been identified in the scientific literature (PMID: 20106510), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G302W missense unknown FGFR2 G302W lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). G302W has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G338R missense unknown FGFR2 G338R lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). G338R has been identified in sequencing studies (PMID: 38983151), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G384E missense unknown FGFR2 G384E lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). G384E has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G462E missense unknown FGFR2 G462E lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). G462E has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G542A missense unknown FGFR2 G542A lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G542A has been identified in the scientific literature (PMID: 38267212), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G583R missense unknown FGFR2 G583R lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G583R has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G583V missense unknown FGFR2 G583V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G583V has been identified in sequencing studies (PMID: 22980975, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G583W missense unknown FGFR2 G583W lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G583W has been identified in sequencing studies (PMID: 22960745, PMID: 24836576), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G690R missense unknown FGFR2 G690R lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G690R has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 G701S missense unknown FGFR2 G701S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G701S is predicted to inhibit Fgfr2 kinase activity indirectly by structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 H213Y missense unknown FGFR2 H213Y lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). H213Y is predicted to disrupt the interaction of Fgfr2 with heparan sulfate based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 I380V missense unknown FGFR2 I380V lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). I380V has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 I547D missense unknown FGFR2 I547D lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I547D has been identified in sequencing studies (PMID: 22383975), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 I549T missense unknown FGFR2 I549T (corresponds to I548T in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I549T has been identified in the scientific literature (PMID: 39226398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 I590M missense unknown FGFR2 I590M lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I590M has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 I642T missense unknown FGFR2 I642T lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I642T has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 K405E missense unknown FGFR2 K405E lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). K405E has been identified in sequencing studies (PMID: 25669975), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 K420I missense unknown FGFR2 K420I lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). K420I has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 K527E missense unknown FGFR2 K527E (corresponds to K526E in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K527E has been identified in the scientific literature (PMID: 39226398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 K659Q missense unknown FGFR2 K659Q lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K659Q has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 K660M missense unknown FGFR2 K660M (corresponds to K659M in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K660M has been associated with resistance to Fgfr inhibitors in the context of an FGFR2 fusion (PMID: 31109923), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 K714R missense unknown FGFR2 K714R (also referred to as K715R from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K714R may be associated with resistance to Fgfr inhibitors, as the corresponding K715R variant in isoform IIIb has been associated with resistance to Fgfr inhibition in the context of an FGFR2 fusion (PMID: 31109923), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 K715R missense unknown FGFR2 K715R (corresponds to K714R in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K715R has been identified in the scientific literature (PMID: 37843855, PMID: 31109923), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 L262_A266delinsD indel unknown FGFR2 L262_A266delinsD results in a deletion of five amino acids from aa 262 to aa 266 within Ig-like C2-type domain 3 of the Fgfr2 protein, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). L262_A266delinsD has been identified in the scientific literature (PMID: 39706336), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 L397M missense unknown FGFR2 L397M lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). L397M has been identified in sequencing studies (PMID: 22383975), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 L550F missense unknown FGFR2 L550F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L550F has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 L551F missense unknown FGFR2 L551F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L551F has been associated with resistance to some FGFR inhibitors in cell culture (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 L551I missense unknown FGFR2 L551I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L551I has been identified in sequencing studies (PMID: 22810696, PMID: 38983151), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Feb 2026).
FGFR2 L552F missense unknown FGFR2 L552F (corresponds to L551F in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L552F has been identified in the scientific literature (PMID: 37843855, PMID: 36089135), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 L617M missense unknown FGFR2 L617M lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L617M has been demonstrated to confer resistance to FGFR inhibitors as a secondary resistance mutation in the context of FGFR2 fusions (PMID: 31911531), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 L617V missense gain of function - predicted FGFR2 L617V (also referred to as V618V from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L617V demonstrates increased Fgfr2 kinase activity compared to wild-type in an in vitro assay (PMID: 28166054) and has been shown to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), and therefore, is predicted to lead to a gain of Fgfr2 protein function. Y
FGFR2 L634V missense unknown FGFR2 L634V (corresponds to L633V in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L634V has been identified in the scientific literature (PMID: 37843855, PMID: 36089135), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 L770V missense unknown FGFR2 L770V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L770V is predicted to decrease phospholipase C-gamma activation by Fgfr2 based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 L772F missense unknown FGFR2 L772F lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). L772F has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 M121V missense unknown FGFR2 M121V lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). M121V has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 M535T missense unknown FGFR2 M535T lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M535T has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 M538L missense unknown FGFR2 M538L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M538L has been identified as a secondary resistance mutation in the context of an FGFR2 fusion (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 M538R missense unknown FGFR2 M538R lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M538R has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 M539L missense unknown FGFR2 M539L (corresponds to M538L in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M539L has been identified in the scientific literature (PMID: 37843855, PMID: 36089135), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 M584V missense loss of function - predicted FGFR2 M584V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M584V results in decreased Erk phosphorylation in cell culture (PMID: 38561822), and therefore, is predicted to lead to a loss of Fgfr2 protein function.
FGFR2 N211I missense unknown FGFR2 N211I lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). N211I has been identified in sequencing studies (PMID: 18552176), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 N550D missense unknown FGFR2 N550D (corresponds to N549D in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550D has been identified in the scientific literature (PMID: 37843855, PMID: 39226398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 N652S missense unknown FGFR2 N652S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N652S has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 P253S missense unknown FGFR2 P253S lies within the extracellular domain of the Fgfr2 protein (UniProt.org). P253S has been identified in sequencing studies (PMID: 11781872), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 P256S missense unknown FGFR2 P256S lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). P256S has been identified in sequencing studies (PMID: 25669975), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 P286S missense unknown FGFR2 P286S lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). P286S has been identified in sequencing studies (PMID: 27103312), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 P775L missense unknown FGFR2 P775L lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). P775L has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 Q289P missense unknown FGFR2 Q289P lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Q289P has been identified in sequencing studies (PMID: 19066959, PMID: 16526917), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 Q620K missense unknown FGFR2 Q620K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). Q620K has been identified in sequencing studies (PMID: 25035393, PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 Q621L missense unknown FGFR2 Q621L (corresponds to Q620L in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). Q621L has been identified in sequencing studies (PMID: 39706336), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 Q746L missense unknown FGFR2 Q746L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). Q746L has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025). Y
FGFR2 R165W missense unknown FGFR2 R165W lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). R165W has been identified in sequencing studies (PMID: 27147599, J Clin Oncol 43, no 4_suppl (Jan 27, 2025)), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Dec 2025).
FGFR2 R178C missense unknown FGFR2 R178C lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). R178C has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Oct 2025).
FGFR2 R478K missense unknown FGFR2 R478K lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). R478K does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown.
FGFR2 R625T missense unknown FGFR2 R625T lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R625T has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 R759Q missense unknown FGFR2 R759Q lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R759Q is predicted to disrupt Fgfr2 kinase activity based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 S24F missense unknown FGFR2 S24F lies within the extracellular domain of the Fgfr2 protein (UniProt.org). S24F has been identified in the scientific literature (PMID: 31453370, PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Apr 2026).
FGFR2 S252F missense unknown FGFR2 S252F lies within the extracellular domain of the Fgfr2 protein (UniProt.org). S252F has been identified in sequencing studies (PMID: 16418739), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 S267P missense unknown FGFR2 S267P lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S267P has been identified in the scientific literature (PMID: 11325814, PMID: 39475375), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 S347C missense unknown FGFR2 S347C lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S347C has been identified in sequencing studies (PMID: 12544231), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 S372C missense gain of function - predicted FGFR2 S372C lies within the extracellular domain of the Fgfr2 protein (PMID: 17525745). S372C (also reported as S373C) results in constitutive dimerization of the receptor (PMID: 17525745), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
FGFR2 S372F missense unknown FGFR2 S372F lies within the extracellular domain of the Fgfr2 protein (Uniprot.org). S372F has been identified in sequencing studies (PMID: 27892470), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 S57L missense unknown FGFR2 S57L lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). S57L has been identified in the scientific literature (PMID: 32206145, PMID: 31874108, PMID: 31470906), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Apr 2026).
FGFR2 S587C missense unknown FGFR2 S587C lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). S587C has been identified in the scientific literature (PMID: 23000897), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 S688F missense unknown FGFR2 S688F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). S688F has been identified in the scientific literature (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 T319I missense unknown FGFR2 T319I lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). T319I has been identified in sequencing studies (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 T370_A371delinsC indel unknown FGFR2 T370_A371delinsC results in a deletion of a threonine (T) and an alanine (A) from aa 370 to aa 371 within the extracellular domain of the Fgfr2 protein, combined with the insertion of a cysteine (C) at the same site (UniProt.org). T370_A371delinsC has been identified in the scientific literature (PMID: 34480077), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 T370_A371delinsS indel unknown FGFR2 T370_A371delinsS results in a deletion of a threonine (T) and an alanine (A) from aa 370 to aa 371 within the extracellular domain of the Fgfr2 protein, combined with the insertion of a serine (S) at the same site (UniProt.org). T370_A371delinsS has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 T370R missense unknown FGFR2 T370R lies within the extracellular domain of the Fgfr2 protein (UniProt.org). T370R has been identified in sequencing studies (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 T764fs frameshift unknown FGFR2 T764fs results in a change in the amino acid sequence of the Fgfr2 protein beginning at aa 764 of 821, likely resulting in premature truncation of the functional protein (UniProt.org). T764fs has been identified in sequencing studies (PMID: 35280424), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 T786K missense unknown FGFR2 T786K lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). T786K has been identified in sequencing studies (PMID: 22960745), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 V169_K176delinsE indel unknown FGFR2 V169_K176delinsE results in a deletion of eight amino acids from aa 169 to aa 176 within Ig-like C2-type domain 2 of the Fgfr2 protein, combined with the insertion of a glutamic acid (E) at the same site (UniProt.org). V169_K176delinsE has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Mar 2026).
FGFR2 V248D missense unknown FGFR2 V248D lies within the extracellular domain of the Fgfr2 protein (UniProt.org). V248D is predicted to destabilize the tertiary fold of the Fgfr2 protein based on structural modeling (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 V514L missense unknown FGFR2 V514L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V514L has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 V563L missense gain of function - predicted FGFR2 V563L (corresponds to V562L in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V563L results in growth-factor independence in a high-throughput cell culture assay (PMID: 41361008) and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 31109923), and therefore, is predicted to lead to a gain of Fgfr2 protein function. Y
FGFR2 V564M missense unknown FGFR2 V564M lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564M has been demonstrated to confer resistance to Fgfr inhibitors in culture (PMID: 25349422), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025). Y
FGFR2 V565Y missense unknown FGFR2 V565Y (corresponds to V564Y in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V565Y has been identified in the scientific literature (PMID: 39226398), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 V77M missense unknown FGFR2 V77M lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). V77M has been identified in the scientific literature (PMID: 19147536), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 W72C missense unknown FGFR2 W72C lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). W72C has been identified in the scientific literature (PMID: 37541273), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 Y281C missense unknown FGFR2 Y281C lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Y281C has been identified in the scientific literature (PMID: 26003532, PMID: 29104507), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026).
FGFR2 Y340C missense unknown FGFR2 Y340C lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Y340C has been identified in sequencing studies (PMID: 16418739), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 Y340H missense unknown FGFR2 Y340H lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Y340H has been identified in sequencing studies (PMID: 16418739), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 Y588D missense unknown FGFR2 Y588D lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). Y588D has been identified in sequencing studies (PMID: 25669975), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2025).
FGFR2 Y769* nonsense gain of function - predicted FGFR2 Y769* results in a premature truncation of the Fgfr2 protein at amino acid 769 of 821 (UniProt.org). Y769* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (Y674*) promotes colony formation in cell culture and leads to tumor formation in a mouse model (PMID: 35948633).
FGFR2 Y779C missense unknown FGFR2 Y779C lies within the cytoplasmic domain domain of the Fgfr2 protein (UniProt.org). Y779C has been demonstrated to confer resistance to Fgfr inhibitors as a secondary resistance mutation (PMID: 34250419), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2026). Y
FGFR3 A179T missense unknown FGFR3 A179T lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). A179T does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 A312V missense unknown FGFR3 A312V lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). A312V does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 A341T missense unknown FGFR3 A341T lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). A341T has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 A441T missense unknown FGFR3 A441T lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). A441T does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 D222N missense unknown FGFR3 D222N lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). D222N has been identified in the scientific literature (PMID: 27271022), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 E216K missense unknown FGFR3 E216K lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). E216K has not been characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 E456K missense unknown FGFR3 E456K lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). E456K has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 E587Q missense unknown FGFR3 E587Q lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). E587Q has been identified in the scientific literature (PMID: 37377403, PMID: 39690380), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 G235D missense unknown FGFR3 G235D lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). G235D has been identified in the scientific literature (PMID: 27271022, PMID: 40521274), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 G299S missense unknown FGFR3 G299S lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). G299S does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 G65R missense unknown FGFR3 G65R lies within Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). G65R has been identified in the scientific literature (PMID: 37980528), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 G710D missense unknown FGFR3 G710D lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). G710D has been identified in sequencing studies (PMID: 25148578, PMID: 31546879), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 H349Y missense unknown FGFR3 H349Y lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). H349Y has been identified in the scientific literature (PMID: 29656465), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 H673Y missense unknown FGFR3 H673Y lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). H673Y has been identified in sequencing studies (PMID: 37682528), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 I376C missense unknown FGFR3 I376C lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). I376C has been identified in sequencing studies (PMID: 16877735), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 K413N missense unknown FGFR3 K413N lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). K413N has been identified in the scientific literature (PMID: 25056374), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 K560E missense unknown FGFR3 K560E lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K560E has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 K649_K650delinsIE indel unknown FGFR3 K649_K650delinsIE results in the deletion of two amino acids in the protein kinase domain of the Fgfr3 protein from amino acids 649 to 650, combined with the insertion of an isoleucine (I) and glutamic acid (E) at the same site (UniProt.org). K649_K650delinsIE has been identified in sequencing studies (PMID: 37682528), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2025).
FGFR3 K715M missense unknown FGFR3 K715M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K715M has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 L385M missense unknown FGFR3 L385M lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). L385M has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 L608V missense unknown FGFR3 L608V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). L608V has been identified in the scientific literature (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 L645V missense unknown FGFR3 L645V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). L645V has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 L794fs frameshift unknown FGFR3 L794fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 794 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). L794fs has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 L794R missense unknown FGFR3 L794R lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). L794R has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 N428S missense unknown FGFR3 N428S lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). N428S has been identified in sequencing studies (PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 N540T missense unknown FGFR3 N540T lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540T has been identified in sequencing studies (PMID: 10425034), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2026).
FGFR3 N540V missense unknown FGFR3 N540V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540V has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 P253_I254insHIA insertion unknown FGFR3 P253_I254insHIA results in the insertion of three amino acids in Ig-like C2-type domain 3 of the Fgfr3 protein between amino acids 253 and 254 (UniProt.org). P253_I254insHIA has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 P418S missense unknown FGFR3 P418S lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). P418S does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 P449S missense unknown FGFR3 P449S lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). P449S does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 P573S missense unknown FGFR3 P573S lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). P573S has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 P795A missense unknown FGFR3 P795A lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). P795A has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 P91L missense unknown FGFR3 P91L lies within Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). P91L has been identified in the scientific literature (PMID: 26907448), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 Q256R missense unknown FGFR3 Q256R lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). Q256R has been identified in sequencing studies (PMID: 28199989), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 R112Q missense unknown FGFR3 R112Q lies within Ig-like C2-type domain 1 of the Fgfr3 protein (UniProt.org). R112Q has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 R175C missense unknown FGFR3 R175C lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). R175C does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 R200C missense unknown FGFR3 R200C lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). R200C has been identified in the scientific literature (PMID: 16912704), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jun 2026).
FGFR3 R252Q missense unknown FGFR3 R252Q lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R252Q does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 R416C missense unknown FGFR3 R416C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R416C does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 R421Q missense gain of function - predicted FGFR3 R421Q lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). R421Q results in increased signaling in the presence or absence of ligand compared to wild-type Fgfr3 in culture (PMID: 38411226), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
FGFR3 S130F missense unknown FGFR3 S130F lies within the extracellular domain of the Fgfr3 protein (UniProt.org). S130F does not significantly alter serum dependency for growth in cell culture (PMID: 40526877), but has not been fully biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown.
FGFR3 S433C missense unknown FGFR3 S433C lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). S433C has been identified in the scientific literature (PMID: 17344920), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 S679F missense unknown FGFR3 S679F lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S679F has been identified in sequencing studies (PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 S736Y missense unknown FGFR3 S736Y lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S736Y has been identified in the scientific literature (PMID: 32043779), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 S756P missense unknown FGFR3 S756P lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S756P has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 V306I missense unknown FGFR3 V306I lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). V306I has been identified in the scientific literature (PMID: 23443805, PMID: 25384085), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 V329A missense unknown FGFR3 V329A lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). V329A has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 V553L missense unknown FGFR3 V553L lies within the protein kinase domain (UniProt.org). V553L has been identified in the scientific literature (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 V553M missense unknown FGFR3 V553M lies within the protein kinase domain (UniProt.org). V553M has been associated with FGFR inhibitor resistance (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026). Y
FGFR3 V555L missense unknown FGFR3 V555L lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V555L has been demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880, PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026). Y
FGFR3 V700A missense unknown FGFR3 V700A lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V700A has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 Y241C missense unknown FGFR3 Y241C lies within Ig-like C2-type domain 2 of the Fgfr3 protein (UniProt.org). Y241C has been identified in the scientific literature (PMID: 12835230), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 Y373H missense unknown FGFR3 Y373H lies within the extracellular domain of the Fgfr3 protein (UniProt.org). Y373H has been identified in the scientific literature (PMID: 34160364), but has not been biochemically characterized, and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FGFR3 Y379C missense unknown FGFR3 Y379C lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y379C has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2026).
FLT3 A450E missense unknown FLT3 A450E lies within the extracellular domain of the Flt3 protein (UniProt.org). A450E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 A627P missense unknown FLT3 A627P lies within the protein kinase domain of the Flt3 protein (UniProt.org). A627P has been demonstrated to confer resistance to FLT3 inhibitors (PMID: 22858906), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026). Y
FLT3 A627T missense unknown FLT3 A627T lies within the protein kinase domain of the Flt3 protein (UniProt.org). A627T has been identified as a drug resistance mutation (PMID: 15374944, PMID: 17620426), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2026). Y
FLT3 A814S missense unknown FLT3 A814S lies within the protein kinase domain of the Flt3 protein (UniProt.org). A814S has been identified in the scientific literature (PMID: 33283233), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 A914D missense unknown FLT3 A914D lies within the protein kinase domain of the Flt3 protein (UniProt.org). A914D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 C35S missense unknown FLT3 C35S lies within the extracellular domain of the Flt3 protein (UniProt.org). C35S has been identified in the scientific literature (PMID: 31088841), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 D358V missense unknown FLT3 D358V lies within the extracellular domain of the Flt3 protein (UniProt.org). D358V has been identified in the scientific literature (PMID: 28466600, PMID: 26118316, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jul 2025).
FLT3 D593del deletion unknown FLT3 D593del results in the deletion of an amino acid in the juxtamembrane domain of the Flt3 protein at amino acid 593 (PMID: 14759363). D593del has been identified in the scientific literature (PMID: 40196870), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Sep 2025).
FLT3 D698N missense unknown FLT3 D698N lies within the protein kinase domain of the Flt3 protein (UniProt.org). D698N has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 24623852, PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 D750Y missense unknown FLT3 D750Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). D750Y has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 D7G missense unknown FLT3 D7G lies within the signal peptide region of the Flt3 protein (UniProt.org). D7G has been identified in the scientific literature (PMID: 27350795, PMID: 28466600), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2026).
FLT3 D835delinsLK indel unknown FLT3 D835delinsLK results in the deletion of aspartic acid (D) at amino acid 835 in the protein kinase domain of the Flt3 protein, combined with the insertion of a leucine (L) and a lysine (K) at the same site (UniProt.org). D835delinsLK has been identified in the scientific literature (PMID: 40196870), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 D835F missense unknown FLT3 D835F lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D835F has been associated with FLT3 inhibitor resistance (PMID: 24227820, PMID: 23430109), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 D835I missense unknown FLT3 D835I lies within the protein kinase domain activation loop of the Flt3 protein (PMID: 11290608). D835I has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 27908881), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026). Y
FLT3 D839A missense unknown FLT3 D839A lies within the activation loop in the protein kinase domain of the Flt3 protein (PMID: 25837374). D839A has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 D839H missense unknown FLT3 D839H lies within the protein kinase domain of the Flt3 protein (UniProt.org). D839H has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026). Y
FLT3 D839N missense unknown FLT3 D839N lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). D839N has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026). Y
FLT3 D870E missense unknown FLT3 D870E lies within the protein kinase domain of the Flt3 protein (UniProt.org). D870E has been identified in sequencing studies (PMID: 24836576), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 D895Y missense unknown FLT3 D895Y lies within the protein kinase domain of the Flt3 protein (UniProt.org). D895Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 E366D missense unknown FLT3 E366D lies within the extracellular domain of the Flt3 protein (UniProt.org). E366D has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 E415K missense unknown FLT3 E415K lies within the extracellular domain of the Flt3 protein (UniProt.org). E415K has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 E654D missense unknown FLT3 E654D lies within the protein kinase domain of the Flt3 protein (UniProt.org). E654D has been identified in the scientific literature (PMID: 32247263), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 E708G missense unknown FLT3 E708G lies within the protein kinase domain of the Flt3 protein (UniProt.org). E708G has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 E778K missense unknown FLT3 E778K lies within the protein kinase domain of the Flt3 protein (UniProt.org). E778K has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 E77K missense unknown FLT3 E77K lies within the extracellular domain of the Flt3 protein (UniProt.org). E77K has been identified in sequencing studies (PMID: 27062340, PMID: 32970934), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2026).
FLT3 E786K missense unknown FLT3 E786K lies within the protein kinase domain of the Flt3 protein (UniProt.org). E786K has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 E858Kfs*29 frameshift unknown FLT3 E858Kfs*29 indicates a shift in the reading frame starting at amino acid 858 and terminating 29 residues downstream causing a premature truncation of the 993 amino acid Flt3 protein (UniProt.org). E858Kfs*29 has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2026).
FLT3 E880K missense unknown FLT3 E880K lies within the protein kinase domain of the Flt3 protein (UniProt.org). E880K has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 E964A missense unknown FLT3 E964A lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). E964A has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 F406C missense unknown FLT3 F406C lies within the extracellular domain of the Flt3 protein (UniProt.org). F406C has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 F621L missense unknown FLT3 F621L lies within the protein kinase domain of the Flt3 protein (UniProt.org). F621L has been identified in the scientific literature (PMID: 22858906), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026). Y
FLT3 F691I missense unknown FLT3 F691I lies within the protein kinase domain of the Flt3 protein (PMID: 23430109). F691I has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 23392356, PMID: 22409268), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 F691L missense no effect - predicted FLT3 F691L lies within the protein kinase domain of the Flt3 protein (PMID: 23430109). F691L has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 23430109, PMID: 19318574, PMID: 22504184, PMID: 29187377), but is not transforming in cell culture (PMID: 30651561), and therefore, is predicted to have no effect on Flt3 protein function. Y
FLT3 F804C missense unknown FLT3 F804C lies within the protein kinase domain of the Flt3 protein (UniProt.org). F804C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 G282R missense unknown FLT3 G282R lies within the Ig-like C2-type domain of the Flt3 protein (UniProt.org). G282R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 G617E missense unknown FLT3 G617E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G617E has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 G619V missense unknown FLT3 G619V lies within the protein kinase domain of the Flt3 protein (UniProt.org). G619V has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 G631R missense unknown FLT3 G631R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G631R has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 G669R missense unknown FLT3 G669R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G669R has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 G697C missense unknown FLT3 G697C lies within the protein kinase domain of the Flt3 protein (UniProt.org). G697C has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 G697R missense unknown FLT3 G697R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G697R has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 15374944, PMID: 22875611, PMID: 17827387), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 G697S missense unknown FLT3 G697S lies within the protein kinase domain of the Flt3 protein (UniProt.org). G697S has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 G757E missense unknown FLT3 G757E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G757E has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 G822E missense unknown FLT3 G822E lies within the protein kinase domain of the Flt3 protein (UniProt.org). G822E has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 G822R missense unknown FLT3 G822R lies within the protein kinase domain of the Flt3 protein (UniProt.org). G822R has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 G846C missense unknown FLT3 G846C lies within the protein kinase domain of the Flt3 protein (UniProt.org). G846C has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 35344039), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026). Y
FLT3 G846R missense unknown FLT3 G846R lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). G846R has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026). Y
FLT3 G905V missense unknown FLT3 G905V lies within the protein kinase domain of the Flt3 protein (UniProt.org). G905V has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 H821fs frameshift unknown FLT3 H821fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 821 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). H821fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 I38V missense unknown FLT3 I38V lies within the extracellular domain of the Flt3 protein (UniProt.org). I38V has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 I417L missense unknown FLT3 I417L lies within the extracellular domain of the Flt3 protein (UniProt.org). I417L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 I836_M837del deletion unknown FLT3 I836_M837del results in the deletion of two amino acids in the protein kinase domain of the Flt3 protein from amino acids 836 to 837 (UniProt.org). I836_M837del has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 I836_M837insIRC insertion unknown FLT3 I836_M837insIRC results in the insertion of three amino acids in the protein kinase domain of the Flt3 protein between amino acids 836 and 837 (UniProt.org). I836_M837insIRC has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 I836delinsLD indel unknown FLT3 I836delinsLD results in the deletion of isoleucine (I) at amino acid 836 in the protein kinase domain of the Flt3 protein, combined with the insertion of a leucine (L) and an aspartic acid (D) at the same site (UniProt.org). I836delinsLD has been identified in the scientific literature (PMID: 40196870), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 I836F missense unknown FLT3 I836F lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836F has been identified in sequencing studies (PMID: 16371029, PMID: 16857985), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 I836H missense unknown FLT3 I836H lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836H has been identified in sequencing studies (PMID: 16912228), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 I836M missense unknown FLT3 I836M lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836M has been identified in the scientific literature (PMID: 15390271, PMID: 15674414, PMID: 38542393), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 I836V missense unknown FLT3 I836V lies within the protein kinase domain of the Flt3 protein (UniProt.org). I836V has been identified in the scientific literature (PMID: 16213360, PMID: 38542393), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 K290T missense unknown FLT3 K290T lies within the Ig-like C2-type domain of the Flt3 protein (UniProt.org). K290T has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 K663R missense unknown FLT3 K663R lies within the protein kinase domain of the Flt3 protein (UniProt.org). K663R has been identified in the scientific literature (PMID: 39080258, PMID: 40196870), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 K826fs frameshift unknown FLT3 K826fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 826 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). K826fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 L37S missense unknown FLT3 L37S lies within the extracellular domain of the Flt3 protein (UniProt.org). L37S has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 L678M missense unknown FLT3 L678M lies within the protein kinase domain of the Flt3 protein (UniProt.org). L678M has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 L699F missense unknown FLT3 L699F lies within the protein kinase domain of the Flt3 protein (UniProt.org). L699F has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 L832F missense unknown FLT3 L832F lies within the protein kinase domain of the Flt3 protein (UniProt.org). L832F has been identified in sequencing studies (PMID: 24221193), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 L850fs frameshift unknown FLT3 L850fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 850 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). L850fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 M664I missense unknown FLT3 M664I lies within the protein kinase domain of the Flt3 protein (UniProt.org). M664I has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 M837_D839delinsGRH indel unknown FLT3 M837_D839delinsGRH results in a deletion of three amino acids in the protein kinase domain of the Flt3 protein from amino acids 837 to 839, combined with the insertion of three amino acids at the same site (UniProt.org). M837_D839delinsGRH has been associated with drug resistance when co-occurring with FLT3 internal tandem duplication (FLT3-ITD) (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 M837G missense unknown FLT3 M837G lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837G has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 M837I missense unknown FLT3 M837I lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837I has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 M837K missense unknown FLT3 M837K lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837K has been identified in the scientific literature (PMID: 32040554, PMID: 31088841), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 M837P missense unknown FLT3 M837P lies within the protein kinase domain of the Flt3 protein (UniProt.org). M837P has been identified in sequencing studies (PMID: 16371029, PMID: 16857985, PMID: 32384149), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 M855T missense unknown FLT3 M855T lies within the protein kinase domain of the Flt3 protein (UniProt.org). M855T has been identified in the scientific literature (PMID: 32040554, PMID: 19318574), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 N609K missense unknown FLT3 N609K lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). N609K has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 N609T missense unknown FLT3 N609T lies within the protein kinase domain of the Flt3 protein (UniProt.org). N609T has been identified in the scientific literature (PMID: 32040554, PMID: 36010254), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 N676D missense unknown FLT3 N676D lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676D has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 22875611, PMID: 15374944), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 N676S missense unknown FLT3 N676S lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676S has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 15374944, PMID: 31790499), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 N676T missense unknown FLT3 N676T lies within the protein kinase domain of the Flt3 protein (UniProt.org). N676T has been associated with resistance to some FLT3 inhibitors (Blood (2019) 134 (Supplement_1): 2672), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026). Y
FLT3 N841H missense unknown FLT3 N841H lies within the protein kinase domain of the Flt3 protein (UniProt.org). N841H has been identified in the scientific literature (PMID: 32040554, PMID: 24623852, PMID: 16990784), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 N841K missense unknown FLT3 N841K lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). N841K results in altered splicing leading to FLT3 exon 20 skipping in a minigene reporter assay (PMID: 41189001), and has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 25487917), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Mar 2026). Y
FLT3 N841T missense unknown FLT3 N841T lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). N841T has been identified in the scientific literature (PMID: 32040554, PMID: 32855275), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 N841Y missense unknown FLT3 N841Y lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). N841Y has been identified in the scientific literature (PMID: 32040554, PMID: 15178581), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 N847fs frameshift unknown FLT3 N847fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 847 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). N847fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 P532S missense unknown FLT3 P532S lies within the extracellular domain of the Flt3 protein (UniProt.org). P532S has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 P54L missense unknown FLT3 P54L lies within the extracellular domain of the Flt3 protein (UniProt.org). P54L has been identified in sequencing studies (PMID: 27320919, PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 P606L missense unknown FLT3 P606L lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). P606L has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 P733Q missense unknown FLT3 P733Q lies within the protein kinase domain of the Flt3 protein (UniProt.org). P733Q has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 P738R missense unknown FLT3 P738R lies within the protein kinase domain of the Flt3 protein (UniProt.org). P738R has been identified in sequencing studies (PMID: 33750258), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 P888S missense unknown FLT3 P888S lies within the protein kinase domain of the Flt3 protein (UniProt.org). P888S has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 P893L missense unknown FLT3 P893L lies within the protein kinase domain of the Flt3 protein (UniProt.org). P893L has been identified in the scientific literature (PMID: 36341335), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 P986L missense unknown FLT3 P986L lies within the cytoplasmic domain of the Flt3 protein (UniProt.org). P986L has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 R174K missense unknown FLT3 R174K lies within the extracellular domain of the Flt3 protein (UniProt.org). R174K has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 R387Q missense unknown FLT3 R387Q lies within the extracellular domain of the Flt3 protein (UniProt.org). R387Q has been identified in the scientific literature (PMID: 32411094), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 R834_D835del deletion unknown FLT3 R834_D835del results in the deletion of two amino acids in the protein kinase domain of the Flt3 protein from amino acids 834 to 835 (UniProt.org). R834_D835del has been identified in sequencing studies (PMID: 31471587, PMID: 33149267), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 R845G missense unknown FLT3 R845G lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). R845G has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 25847190, PMID: 30962949), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 R845S missense unknown FLT3 R845S lies within the activation loop of the protein kinase domain of the Flt3 protein (PMID: 25837374). R845S has been identified in the scientific literature (PMID: 32040554, PMID: 40196870), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 R849fs frameshift unknown FLT3 R849fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 849 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). R849fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 R933L missense unknown FLT3 R933L lies within the protein kinase domain of the Flt3 protein (UniProt.org). R933L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 S127F missense unknown FLT3 S127F lies within the extracellular domain of the Flt3 protein (UniProt.org). S127F has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 S451E missense unknown FLT3 S451E lies within the extracellular domain of the Flt3 protein (UniProt.org). S451E has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 S454L missense unknown FLT3 S454L lies within the extracellular domain of the Flt3 protein (UniProt.org). S454L has been identified in sequencing studies (PMID: 25056374, PMID: 30115035, PMID: 33854152), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 S618L missense unknown FLT3 S618L lies within the protein kinase domain of the Flt3 protein (UniProt.org). S618L has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 S652G missense unknown FLT3 S652G lies within the protein kinase domain of the Flt3 protein (UniProt.org). S652G has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 S705N missense unknown FLT3 S705N lies within the protein kinase domain of the Flt3 protein (UniProt.org). S705N has been identified in the scientific literature (PMID: 32040554), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Dec 2025).
FLT3 S71I missense unknown FLT3 S71I lies within the extracellular domain of the Flt3 protein (UniProt.org). S71I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 S838R missense unknown FLT3 S838R lies within the protein kinase domain of the Flt3 protein (UniProt.org). S838R has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 S88F missense unknown FLT3 S88F lies within the extracellular domain of the Flt3 protein (UniProt.org). S88F has been identified in sequencing studies (PMID: 26950094), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 S985fs frameshift unknown FLT3 S985fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 985 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). S985fs has been identified in sequencing studies (PMID: 25562415), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026).
FLT3 T136N missense unknown FLT3 T136N lies within the extracellular domain of the Flt3 protein (UniProt.org). T136N has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 T227M missense unknown FLT3 T227M lies within the extracellular domain of the Flt3 protein (UniProt.org). T227M has been identified in the scientific literature (PMID: 36739272, PMID: 29519565, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 T628I missense unknown FLT3 T628I lies within the protein kinase domain of the Flt3 protein (UniProt.org). T628I has been identified in sequencing studies (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 T820A missense unknown FLT3 T820A lies within the protein kinase domain of the Flt3 protein (UniProt.org). T820A has been identified in the scientific literature (PMID: 25847190), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 V197A missense unknown FLT3 V197A lies within the extracellular domain of the Flt3 protein (UniProt.org). V197A has been identified in sequencing studies (PMID: 25562415), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2024).
FLT3 V220G missense unknown FLT3 V220G lies within the extracellular domain of the Flt3 protein (UniProt.org). V220G has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 V491L missense unknown FLT3 V491L lies within the extracellular domain of the Flt3 protein (UniProt.org). V491L has been identified in the scientific literature (PMID: 41487332, PMID: 37680325, PMID: 38502195), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 V557A missense unknown FLT3 V557A lies within the transmembrane domain of the Flt3 protein (UniProt.org). V557A has been identified in sequencing studies (PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 V557I missense unknown FLT3 V557I lies within the transmembrane domain of the Flt3 protein (UniProt.org). V557I has been identified in the scientific literature (PMID: 18068628), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 V637F missense unknown FLT3 V637F lies within the protein kinase domain of the Flt3 protein (UniProt.org). V637F has been identified in sequencing studies (PMID: 29936259, PMID: 37586297), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 V637I missense unknown FLT3 V637I lies within the protein kinase domain of the Flt3 protein (UniProt.org). V637I has been identified in sequencing studies (PMID: 35273153), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 V819I missense unknown FLT3 V819I lies within the protein kinase domain of the Flt3 protein (UniProt.org). V819I has not been characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 V824fs frameshift unknown FLT3 V824fs results in a change in the amino acid sequence of the Flt3 protein beginning at aa 824 of 993, likely resulting in premature truncation of the functional protein (UniProt.org). V824fs has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 V825* nonsense unknown FLT3 V825* results in a premature truncation of the Flt3 protein at amino acid 825 of 993 within the protein kinase domain of the Flt3 protein (UniProt.org). V825* has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026).
FLT3 V843A missense unknown FLT3 V843A lies within the protein kinase domain of the Flt3 protein (UniProt.org). V843A has not been characterized in the scientific literature and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 V843I missense unknown FLT3 V843I lies within the protein kinase domain of the Flt3 protein (UniProt.org). V843I has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 35344039), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, May 2026). Y
FLT3 W105C missense unknown FLT3 W105C lies within the extracellular domain of the Flt3 protein (UniProt.org). W105C has been identified in sequencing studies (PMID: 34476097), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 Y457C missense unknown FLT3 Y457C lies within the extracellular domain of the Flt3 protein (UniProt.org). Y457C has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025).
FLT3 Y591D missense unknown FLT3 Y591D lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). Y591D has been identified in the scientific literature (PMID: 14984498, PMID: 36444394), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Nov 2025).
FLT3 Y693C missense unknown FLT3 Y693C lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693C has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 32040554, PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Apr 2026). Y
FLT3 Y693F missense unknown FLT3 Y693F lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693F has been identified in the scientific literature (PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
FLT3 Y693N missense unknown FLT3 Y693N lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y693N has been demonstrated to promote secondary drug resistance in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 32040554, PMID: 35395091), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026). Y
FLT3 Y842D missense unknown FLT3 Y842D lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842D has been demonstrated to occur as a secondary resistance mutation in the context of FLT3 internal tandem duplication (FLT3-ITD) mutations (PMID: 19318574, PMID: 25487917), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Oct 2025). Y
FLT3 Y842R missense unknown FLT3 Y842R lies within the protein kinase domain of the Flt3 protein (UniProt.org). Y842R has been identified in the scientific literature (PMID: 32247263), but has not been biochemically characterized and therefore, its effect on Flt3 protein function is unknown (PubMed, Jan 2026).
HRAS A11D missense unknown HRAS A11D does not lie within any known functional domains of the Hras protein (UniProt.org). A11D has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Nov 2025).
HRAS A11S missense unknown HRAS A11S does not lie within any known functional domains of the Hras protein (UniProt.org). A11S has been identified in the scientific literature (PMID: 22683711, PMID: 29210482), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS A130T missense unknown HRAS A130T does not lie within any known functional domains of the Hras protein (UniProt.org). A130T has been identified in the scientific literature (PMID: 30348504), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS A134S missense unknown HRAS A134S does not lie within any known functional domains of the Hras protein (UniProt.org). A134S has been identified in sequencing studies (PMID: 26870252), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS A134T missense unknown HRAS A134T does not lie within any known functional domains of the Hras protein (UniProt.org). A134T has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, May 2026).
HRAS A59D missense unknown HRAS A59D lies within a GTP binding region of the Hras protein (UniProt.org). A59D has not been characterized in the scientific literature and therefore, its effect on Hras protein function is unknown (PubMed, May 2026).
HRAS A66T missense unknown HRAS A66T does not lie within any known functional domains of the Hras protein (UniProt.org). A66T has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Aug 2025).
HRAS D47E missense unknown HRAS D47E does not lie within any known functional domains of the Hras protein (UniProt.org). D47E has not been characterized in the scientific literature and therefore, its effect on Hras protein function is unknown (PubMed, Aug 2025).
HRAS E143K missense unknown HRAS E143K does not lie within any known functional domains of the Hras protein (UniProt.org). E143K has been identified in sequencing studies (PMID: 30462564, PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Mar 2026).
HRAS E162G missense unknown HRAS E162G does not lie within any known functional domains of the Hras protein (UniProt.org). E162G has not been characterized and therefore, its effect on Hras protein function is unknown (PubMed, Aug 2025).
HRAS E162K missense unknown HRAS E162K does not lie within any known functional domains of the Hras protein (UniProt.org). E162K has been identified in the scientific literature (PMID: 22932669), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS E62G missense unknown HRAS E62G lies within the GTP binding domain of the Hras protein (PMID: 21779495). E62G has been identified in the scientific literature (PMID: 19628422, PMID: 35062725), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS E91K missense unknown HRAS E91K does not lie within any known functional domains of the Hras protein (UniProt.org). E91K has not been characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS F82L missense unknown HRAS F82L does not lie within any known functional domains of the Hras protein (UniProt.org). F82L has been identified in the scientific literature (PMID: 28939558, PMID: 25360634), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS G10S missense unknown HRAS G10S does not lie within any known functional domains of the Hras protein (UniProt.org). G10S has been identified in sequencing studies (PMID: 27713118, PMID: 39284955, PMID: 34975100), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, May 2026).
HRAS G13dup duplication unknown HRAS G13dup indicates the insertion of the duplicate amino acid, glycine (G)-13, in a GTP-binding region of the Hras protein (UniProt.org). G13dup has been identified in the scientific literature (PMID: 39748775), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Mar 2026).
HRAS G13N missense unknown HRAS G13N lies within the GTP nucleotide binding region of the Hras protein (UniProt.org). G13N has been identified in sequencing studies (PMID: 34424952), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS G151E missense unknown HRAS G151E does not lie within any known functional domains of the Hras protein (UniProt.org). G151E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS G15S missense unknown HRAS G15S lies within a GTP-binding region of the Hras protein (UniProt.org). G15S has been identified in sequencing studies (PMID: 29844865, PMID: 9528840), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS L120V missense unknown HRAS L120V does not lie within any known functional domains of the Hras protein (UniProt.org). L120V has not been characterized in the scientific literature and therefore, its effect on Hras protein function is unknown (PubMed, Apr 2026).
HRAS N26S missense unknown HRAS N26S does not lie within any known functional domains of the Hras protein (UniProt.org). N26S has been identified in sequencing studies (PMID: 28229982, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS P174S missense unknown HRAS P174S lies within the hypervariable region of the Hras protein (UniProt.org). P174S has been identified in sequencing studies (PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS Q95H missense unknown HRAS Q95H does not lie within any known functional domains of the Hras protein (UniProt.org). Q95H has been identified in the scientific literature (PMID: 37339170), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Jan 2026).
HRAS R123H missense unknown HRAS R123H does not lie within any known functional domains of the Hras protein (UniProt.org). R123H has been identified in sequencing studies (PMID: 25303977, PMID: 36089135), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Apr 2026).
HRAS R128L missense unknown HRAS R128L does not lie within any known functional domains of the Hras protein (UniProt.org). R128L has been identified in sequencing studies (PMID: 22941189, PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Mar 2026).
HRAS R128W missense unknown HRAS R128W does not lie within any known functional domains of the Hras protein (UniProt.org). R128W has been identified in sequencing studies (PMID: 27499925), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS R73C missense unknown HRAS R73C does not lie within any known functional domains of the Hras protein (UniProt.org). R73C has been identified in sequencing studies (PMID: 22185227, PMID: 15861495), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Apr 2026).
HRAS R73H missense unknown HRAS R73H does not lie within any known functional domains of the Hras protein (UniProt.org). R73H has been identified in sequencing studies (PMID: 26677030, PMID: 31604779), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Mar 2026).
HRAS S106W missense unknown HRAS S106W does not lie within any known functional domains of the Hras protein (UniProt.org). S106W has not been characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS V81M missense unknown HRAS V81M does not lie within any known functional domains of the Hras protein (UniProt.org). V81M has been identified in sequencing studies (PMID: 27612322, PMID: 24997986, PMID: 14616967), but has not been biochemically characterized and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
HRAS Y157F missense unknown HRAS Y157F does not lie within any known functional domains of the Hras protein (UniProt.org). Y157F has not been characterized in the scientific literature and therefore, its effect on Hras protein function is unknown (PubMed, Sep 2025).
IDH1 A179D missense unknown IDH1 A179D does not lie within any known functional domains of the Idh1 protein (UniProt.org). A179D has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 D279N missense unknown IDH1 D279N does not lie within any known functional domains of the Idh1 protein (UniProt.org). D279N results in cellular transformation in the context of IDH1 R132H (PMID: 36056177) and has been associated with acquired IDH1 inhibitor resistance with IDH1 R132C (PMID: 32380538; PMID: 36056177), but has not been individually characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 D299H missense unknown IDH1 D299H does not lie within any known functional domains of the Idh1 protein (UniProt.org). D299H has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 D375Y missense unknown IDH1 D375Y does not lie within any known functional domains of the Idh1 protein (UniProt.org). D375Y has been identified in the scientific literature (PMID: 32313423), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Jan 2026).
IDH1 E17K missense unknown IDH1 E17K does not lie within any known functional domains of the Idh1 protein (UniProt.org). E17K has been identified in the sequencing studies (PMID: 27406316), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 F32V missense unknown IDH1 F32V does not lie within any known functional domains of the Idh1 protein (UniProt.org). F32V has been identified in sequencing studies (PMID: 34160418, PMID: 37459200), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Feb 2026).
IDH1 G123E missense unknown IDH1 G123E lies within the active site of the Idh1 protein (PMID: 20972461). G123E has been identified in sequencing studies (PMID: 30113684, PMID: 20567020), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 G131A missense unknown IDH1 G131A does not lie within any known functional domains of the Idh1 protein (UniProt.org). G131A has been associated with acquired IDH1 inhibitor resistance with IDH1 R132C (PMID: 32380538), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Sep 2025).
IDH1 G221V missense unknown IDH1 G221V does not lie within any known functional domains of the Idh1 protein (UniProt.org). G221V has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 G8S missense unknown IDH1 G8S does not lie within any known functional domains of the Idh1 protein (UniProt.org). G8S has been identified in sequencing studies (PMID: 27093186), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 I112V missense unknown IDH1 I112V does not lie within any known functional domains of the Idh1 protein (UniProt.org). I112V has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 I113V missense unknown IDH1 I113V does not lie within any known functional domains of the Idh1 protein (UniProt.org). I113V has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 I130_G131insRCI insertion unknown IDH1 I130_G131insRCI results in the insertion of three amino acids of the Idh1 protein between amino acids 130 and 131 (UniProt.org). I130_G131insRCI has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Mar 2026).
IDH1 I380F missense unknown IDH1 I380F does not lie within any known functional domains of the Idh1 protein (UniProt.org). I380F has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 K3N missense unknown IDH1 K3N does not lie within any known functional domains of the Idh1 protein (UniProt.org). K3N has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 K81N missense unknown IDH1 K81N does not lie within any known functional domains of the Idh1 protein (UniProt.org). K81N has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 L359F missense unknown IDH1 L359F does not lie within any known functional domains of the Idh1 protein (UniProt.org). L359F has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 M182L missense unknown IDH1 M182L does not lie within any known functional domains of the Idh1 protein (UniProt.org). M182L has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 M291I missense unknown IDH1 M291I does not lie within any known functional domains of the Idh1 protein (UniProt.org). M291I has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 N116S missense unknown IDH1 N116S does not lie within any known functional domains of the Idh1 protein (UniProt.org). N116S has been identified in sequencing studies (PMID: 21647152), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 Q320H missense unknown IDH1 Q320H does not lie within any known functional domains of the Idh1 protein (UniProt.org). Q320H has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 R109K missense unknown IDH1 R109K lies within a substrate binding site of the Idh1 protein (UniProt.org). R109K has been identified in the scientific literature (PMID: 35639915, PMID: 24532263), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 R119P missense unknown IDH1 R119P does not lie within any known functional domains of the Idh1 protein (UniProt.org). R119P has been associated with acquired IDH1 inhibitor resistance with IDH1 R132C/L (PMID: 32380538), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025). Y
IDH1 R119Q missense unknown IDH1 R119Q does not lie within any known functional domains of the Idh1 protein (UniProt.org). R119Q has been identified in the scientific literature (PMID: 28524162, PMID: 24376688, PMID: 36812383), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 R119W missense unknown IDH1 R119W does not lie within any known functional domains of the Idh1 protein (UniProt.org). R119W has been identified in sequencing studies (PMID: 28419429, PMID: 23469962, PMID: 37424322), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 R132G missense gain of function IDH1 R132G lies within the active site of the Idh1 protein (PMID: 19228619). R132G confers a gain of function to Idh1, as indicated by production of 2-hydroxyglutarate (2HG) in patient tissue and in vitro assays (PMID: 28330869, PMID: 24529257).
IDH1 R132I missense unknown IDH1 R132I lies within the active site of the Idh1 protein (PMID: 19228619). R132I has been identified in the scientific literature (PMID: 24403254, PMID: 31615936), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 R132P missense unknown IDH1 R132P lies within the active site of the Idh1 protein (PMID: 19228619). R132P has been identified in sequencing studies (PMID: 22520341, PMID: 20077503), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 R132V missense unknown IDH1 R132V lies within the active site of the Idh1 protein (PMID: 19228619). R132V has been identified in the scientific literature (PMID: 28330869, PMID: 26189213, PMID: 18985363), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 R222C missense unknown IDH1 R222C does not lie within any known functional domains of the Idh1 protein (UniProt.org). R222C has been identified in sequencing studies (PMID: 29807833, PMID: 27149842, PMID: 33577785), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 R314H missense unknown IDH1 R314H lies within an NADP-binding region of the Idh1 protein (UniProt.org). R314H has been identified in the scientific literature (PMID: 34722261, PMID: 36355572), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2026).
IDH1 R338T missense unknown IDH1 R338T does not lie within any known functional domains of the Idh1 protein (UniProt.org). R338T has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 S261L missense unknown IDH1 S261L does not lie within any known functional domains of the Idh1 protein (UniProt.org). S261L has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 T162A missense unknown IDH1 T162A does not lie within any known functional domains of the Idh1 protein (UniProt.org). T162A has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 T325M missense unknown IDH1 T325M does not lie within any known functional domains of the Idh1 protein (UniProt.org). T325M has been identified in sequencing studies (PMID: 24325359), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 V386L missense unknown IDH1 V386L does not lie within any known functional domains of the Idh1 protein (UniProt.org). V386L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 W92R missense unknown IDH1 W92R does not lie within any known functional domains of the Idh1 protein (UniProt.org). W92R has been identified in sequencing studies (PMID: 30352278, PMID: 26645239), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH1 Y235C missense unknown IDH1 Y235C does not lie within any known functional domains of the Idh1 protein (UniProt.org). Y235C has been identified in sequencing studies (PMID: 24760710), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Mar 2026).
IDH1 Y285H missense unknown IDH1 Y285H does not lie within any known functional domains of the Idh1 protein (UniProt.org). Y285H has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2025).
IDH2 A101P missense unknown IDH2 A101P does not lie within any known functional domains of the Idh2 protein (UniProt.org). A101P has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 A370T missense unknown IDH2 A370T does not lie within any known functional domains of the Idh2 protein (UniProt.org). A370T has been identified in sequencing studies (PMID: 32321774), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 A410S missense unknown IDH2 A410S does not lie within any known functional domains of the Idh2 protein (UniProt.org). A410S has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 A416fs frameshift unknown IDH2 A416fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 416 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). A416fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, May 2026).
IDH2 A416V missense unknown IDH2 A416V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A416V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 A47V missense unknown IDH2 A47V does not lie within any known functional domains of the Idh2 protein (UniProt.org). A47V has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 C402Y missense unknown IDH2 C402Y does not lie within any known functional domains of the Idh2 protein (UniProt.org). C402Y has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 D83V missense unknown IDH2 D83V does not lie within any known functional domains of the Idh2 protein (UniProt.org). D83V has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 E226K missense unknown IDH2 E226K does not lie within any known functional domains of the Idh2 protein (UniProt.org). E226K has been identified in sequencing studies (PMID: 24030381, PMID: 36690887), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 E268D missense unknown IDH2 E268D does not lie within any known functional domains of the Idh2 protein (UniProt.org). E268D has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 E68K missense unknown IDH2 E68K does not lie within any known functional domains of the Idh2 protein (UniProt.org). E68K has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 G137E missense unknown IDH2 G137E lies within the substrate binding region of the Idh2 protein (UniProt.org). G137E has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 G144R missense unknown IDH2 G144R does not lie within any known functional domains of the Idh2 protein (UniProt.org). G144R has been identified in sequencing studies (PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Dec 2025).
IDH2 G145R missense unknown IDH2 G145R does not lie within any known functional domains of the Idh2 protein (UniProt.org). G145R has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 G171D missense unknown IDH2 G171D does not lie within any known functional domains of the Idh2 protein (UniProt.org). G171D has been identified in sequencing studies (PMID: 21356389, PMID: 28188106), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 G190D missense unknown IDH2 G190D does not lie within any known functional domains of the Idh2 protein (UniProt.org). G190D has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 G201D missense unknown IDH2 G201D does not lie within any known functional domains of the Idh2 protein (UniProt.org). G201D has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 G260W missense unknown IDH2 G260W does not lie within any known functional domains of the Idh2 protein (UniProt.org). G260W has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 G421S missense unknown IDH2 G421S does not lie within any known functional domains of the Idh2 protein (UniProt.org). G421S has been identified in the scientific literature (PMID: 31612017), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 H358R missense unknown IDH2 H358R does not lie within any known functional domains of the Idh2 protein (UniProt.org). H358R has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 I139F missense unknown IDH2 I139F lies within the substrate binding region of the Idh2 protein (UniProt.org). I139F has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 I228L missense unknown IDH2 I228L does not lie within any known functional domains of the Idh2 protein (UniProt.org). I228L has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 I441T missense unknown IDH2 I441T does not lie within any known functional domains of the Idh2 protein (UniProt.org). I441T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Oct 2025).
IDH2 K130del deletion unknown IDH2 K130del results in the deletion of an amino acid of the Idh2 protein at amino acid 130 (UniProt.org). K130del is not associated with induction of tumor formation in mice (PMID: 27478040), but has not been fully biochemically characterized and therefore, its effect on Idh2 protein function is unknown.
IDH2 K133R missense unknown IDH2 K133R does not lie within any known functional domains of the Idh2 protein (UniProt.org). K133R has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 K280N missense unknown IDH2 K280N does not lie within any known functional domains of the Idh2 protein (UniProt.org). K280N has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 K48N missense unknown IDH2 K48N does not lie within any known functional domains of the Idh2 protein (UniProt.org). K48N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Dec 2025).
IDH2 L143M missense unknown IDH2 L143M does not lie within any known functional domains of the Idh2 protein (UniProt.org). L143M has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 M248T missense unknown IDH2 M248T does not lie within any known functional domains of the Idh2 protein (UniProt.org). M248T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 P151H missense unknown IDH2 P151H does not lie within any known functional domains of the Idh2 protein (UniProt.org). P151H has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 P158L missense unknown IDH2 P158L does not lie within any known functional domains of the Idh2 protein (UniProt.org). P158L has been identified in sequencing studies (PMID: 25495392), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 P158T missense unknown IDH2 P158T does not lie within any known functional domains of the Idh2 protein (UniProt.org). P158T has been identified in sequencing studies (PMID: 21356389), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 P162S missense unknown IDH2 P162S does not lie within any known functional domains of the Idh2 protein (UniProt.org). P162S has been identified in sequencing studies (PMID: 26068201, PMID: 25495392, PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 Q322K missense unknown IDH2 Q322K does not lie within any known functional domains of the Idh2 protein (UniProt.org). Q322K has not been characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 Q359H missense unknown IDH2 Q359H does not lie within any known functional domains of the Idh2 protein (UniProt.org). Q359H has been identified in sequencing studies (PMID: 30545397), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 R140K missense unknown IDH2 R140K lies within the substrate binding region of the Idh2 protein (UniProt.org). R140K has been identified in sequencing studies (PMID: 27509124), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 R140L missense unknown IDH2 R140L lies within the substrate binding region of the Idh2 protein (UniProt.org). R140L has been identified in the scientific literature (PMID: 29448963, PMID: 38980314, PMID: 36064577), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 R140M missense unknown IDH2 R140M lies within the substrate binding region of the Idh2 protein (UniProt.org). R140M has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 R140S missense unknown IDH2 R140S lies within the substrate binding region of the Idh2 protein (UniProt.org). R140S has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 R172T missense unknown IDH2 R172T lies within the active site of the Idh2 protein (PMID: 19228619). R172T is associated with increased levels of 2-hydroxyglutarate (2-HG) in patient samples (PMID: 27913435, PMID: 27956631), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown.
IDH2 R353fs frameshift unknown IDH2 R353fs results in a change in the amino acid sequence of the Idh2 protein beginning at aa 353 of 452, likely resulting in premature truncation of the functional protein (UniProt.org). R353fs has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, May 2026).
IDH2 R377C missense unknown IDH2 R377C does not lie within any known functional domains of the Idh2 protein (UniProt.org). R377C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 S301L missense unknown IDH2 S301L does not lie within any known functional domains of the Idh2 protein (UniProt.org). S301L has been identified in sequencing studies (PMID: 29162652), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 T331M missense unknown IDH2 T331M does not lie within any known functional domains of the Idh2 protein (UniProt.org). T331M has an associated gene expression profile similar to wild-type Idh2 (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Nov 2025).
IDH2 T435M missense unknown IDH2 T435M does not lie within any known functional domains of the Idh2 protein (UniProt.org). T435M has been identified in sequencing studies (PMID: 34462665, PMID: 29954938, PMID: 28584132), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 V305M missense unknown IDH2 V305M does not lie within any known functional domains of the Idh2 protein (UniProt.org). V305M has been identified in the scientific literature (PMID: 34994649), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
IDH2 W375* nonsense unknown IDH2 W375* results in a premature truncation of the Idh2 protein at amino acid 375 of 452 (UniProt.org). W375* has not been characterized in the scientific literature and therefore, its effect on Idh2 protein function is unknown (PubMed, Sep 2025).
JAK2 A660S missense unknown JAK2 A660S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). A660S has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 A676V missense unknown JAK2 A676V lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). A676V has been identified in sequencing studies (PMID: 28292439), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 C480F missense unknown JAK2 C480F lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). C480F has been identified in the scientific literature (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 D319G missense unknown JAK2 D319G lies within the FERM domain of the Jak2 protein (UniProt.org). D319G has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 D319N missense unknown JAK2 D319N lies within the FERM domain of the Jak2 protein (UniProt.org). D319N has been identified in sequencing studies (PMID: 26674132, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 D544G missense unknown JAK2 D544G does not lie within any known functional domains of the Jak2 protein (UniProt.org). D544G has been identified in sequencing studies (PMID: 19491085), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 D569Y missense unknown JAK2 D569Y lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). D569Y has been identified in sequencing studies (PMID: 39720955), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 D620E missense unknown JAK2 D620E lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). D620E has been identified in the scientific literature (PMID: 16871281, PMID: 17008888), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 D894G missense unknown JAK2 D894G lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). D894G has been identified in sequencing studies (PMID: 27561722, PMID: 30304655, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E1006* nonsense unknown JAK2 E1006* results in a premature truncation of the Jak2 protein at amino acid 1006 of 1132 (UniProt.org). E1006* has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E1012* nonsense unknown JAK2 E1012* results in a premature truncation of the Jak2 protein at amino acid 1012 of 1132 (UniProt.org). E1012* has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E1080* nonsense unknown JAK2 E1080* results in a premature truncation of the Jak2 protein at amino acid 1080 of 1132 (UniProt.org). E1080* has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E10K missense unknown JAK2 E10K lies within the cytokine/interferon/growth hormone receptors-interacting region of the Jak2 protein (UniProt.org). E10K has been identified in sequencing studies (PMID: 24836576), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E177V missense unknown JAK2 E177V lies within the FERM domain of the Jak2 protein (UniProt.org). E177V has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E283del deletion unknown JAK2 E283del results in the deletion of an amino acid within the FERM domain of the Jak2 protein at amino acid 283 (UniProt.org). E283del has been identified in the scientific literature (PMID: 31742675, PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Dec 2025).
JAK2 E484K missense unknown JAK2 E484K does not lie within any known functional domains of the Jak2 protein (UniProt.org). E484K has been identified in sequencing studies (PMID: 28028924), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E543_D544del deletion unknown JAK2 E543_D544del results in the deletion of two amino acids of the Jak2 protein from amino acids 543 to 544 (UniProt.org). E543_D544del has been identified in the scientific literature (PMID: 27410038, PMID: 26361084, PMID: 17984312), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2026).
JAK2 E61K missense unknown JAK2 E61K lies within the FERM domain of the Jak2 protein (UniProt.org). E61K has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E890G missense unknown JAK2 E890G lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). E890G has been identified in sequencing studies (PMID: 34480095), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 E985K missense unknown JAK2 E985K lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). E985K has been demonstrated to confer resistance to Jak inhibitors in the context of complex JAK2 mutations (PMID: 21926964), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 E987D missense unknown JAK2 E987D lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). E987D has been demonstrated to confer resistance to Jak inhibitors in the context of complex JAK2 mutations (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 F1061W missense unknown JAK2 F1061W lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). F1061W has been demonstrated to confer Jak2 inhibitor resistance in combination with V617F and Y931C in culture (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 F439S missense unknown JAK2 F439S lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). F439S has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 F556L missense unknown JAK2 F556L lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). F556L has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 F560S missense unknown JAK2 F560S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). F560S has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 G276A missense unknown JAK2 G276A lies within the FERM domain of the Jak2 protein (UniProt.org). G276A has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 G295E missense unknown JAK2 G295E lies within the FERM domain of the Jak2 protein (UniProt.org). G295E has been identified in sequencing studies (PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 G301R missense unknown JAK2 G301R lies within the FERM domain of the Jak2 protein (UniProt.org). G301R has been identified in sequencing studies (PMID: 30811597, PMID: 30259120), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Aug 2025).
JAK2 G417S missense unknown JAK2 G417S lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). G417S has been identified in sequencing studies (PMID: 30811597, PMID: 23699601, PMID: 29146900), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Nov 2025).
JAK2 G48E missense unknown JAK2 G48E lies within the FERM domain of the Jak2 protein (UniProt.org). G48E has been identified in sequencing studies (PMID: 30811597, PMID: 25801821, PMID: 36531003), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Dec 2025).
JAK2 G831R missense unknown JAK2 G831R does not lie within any known functional domains of the Jak2 protein (UniProt.org). G831R has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 G834S missense unknown JAK2 G834S does not lie within any known functional domains of the Jak2 protein (UniProt.org). G834S has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 H538_K539delinsL indel unknown JAK2 H538_K539delinsL results in a deletion of two amino acids of the Jak2 protein from amino acids 538 to 539, combined with the insertion of a leucine (L) at the same site (UniProt.org). H538_K539delinsL has been identified in the scientific literature (PMID: 32277273, PMID: 27410038, PMID: 22642932), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2026).
JAK2 H587N missense unknown JAK2 H587N lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H587N is predicted to disrupt Jak2 protein function by structural modeling (PMID: 19744331), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 H606Q missense unknown JAK2 H606Q lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H606Q is predicted to disrupt Jak2 protein function by structural modeling (PMID: 19744331), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 H608Y missense gain of function JAK2 H608Y lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). H608Y disrupts Jak2 autoinhibition and leads to increased enzymatic activity and ATP and Stat5 affinity in in vitro assays, increased cell proliferation, and increased cytokine-dependent and -independent Stat5 activation in culture (PMID: 36529225).
JAK2 I1126V missense unknown JAK2 I1126V does not lie within any known functional domains of the Jak2 protein (UniProt.org). I1126V has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 I136L missense unknown JAK2 I136L lies within the FERM domain of the Jak2 protein (UniProt.org). I136L has been identified in sequencing studies (PMID: 30811597, PMID: 38669390, PMID: 30054295), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2026).
JAK2 I324T missense unknown JAK2 I324T lies within the FERM domain of the Jak2 protein (UniProt.org). I324T has been identified in sequencing studies (PMID: 30811597, PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 I404N missense unknown JAK2 I404N lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). I404N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 I540_E543delinsMK indel unknown JAK2 I540_E543delinsMK results in a deletion of four amino acids of the Jak2 protein from amino acids 540 to 543, combined with the insertion of a methionine (M) and a lysine (K) at the same site (UniProt.org). I540_E543delinsMK has been identified in sequencing studies (PMID: 22642932, PMID: 17984312, PMID: 17914411), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2026).
JAK2 I540N missense unknown JAK2 I540N does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540N has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 I540T missense unknown JAK2 I540T does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540T has been identified in the scientific literature (PMID: 21497288, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 I645V missense unknown JAK2 I645V lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). I645V has been identified in the scientific literature (PMID: 19074595, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 I899T missense unknown JAK2 I899T lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). I899T has been identified in sequencing studies (PMID: 30811597, PMID: 30259120, PMID: 22897847), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Dec 2025).
JAK2 I960V missense unknown JAK2 I960V lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). I960V has been described as a secondary drug resistance mutation in the context of JAK2 V617F (PMID: 23009939, PMID: 21926964), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 K167Q missense unknown JAK2 K167Q lies within the FERM domain of the Jak2 protein (UniProt.org). K167Q has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 K912T missense unknown JAK2 K912T lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). K912T has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L1047I missense unknown JAK2 L1047I lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L1047I has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L113V missense unknown JAK2 L113V lies within the FERM domain of the Jak2 protein (UniProt.org). L113V has been identified in sequencing studies (PMID: 30811597, PMID: 29338072, PMID: 38468832), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L359I missense unknown JAK2 L359I lies within the FERM domain of the Jak2 protein (UniProt.org). L359I has been identified in sequencing studies (PMID: 30811597, PMID: 30259120), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L393V missense gain of function JAK2 L393V lies within a linker region of the Jak2 protein (PMID: 29685781). L393V confers a gain of function to the Jak2 protein, as demonstrated by increased transcriptional activity of Stat1, 3, and 5, and increased ligand-dependent cell viability as compared to wild-type Jak2 in culture (PMID: 27647865).
JAK2 L545S missense unknown JAK2 L545S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L545S has been identified in sequencing studies (PMID: 19491085), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L579I missense unknown JAK2 L579I lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L579I has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L579V missense unknown JAK2 L579V lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L579V has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L583_A586delinsP indel unknown JAK2 L583_A586delinsP results in a deletion of four amino acids of the Jak2 protein from amino acids 583 to 586, combined with the insertion of a proline (P) at the same site (UniProt.org). L583_A586delinsP has been identified in the scientific literature (PMID: 31697804), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2026).
JAK2 L583_A586delinsQ indel unknown JAK2 L583_A586delinsQ results in a deletion of four amino acids of the Jak2 protein from amino acids 583 to 586, combined with the insertion of a glutamine (Q) at the same site (UniProt.org). L583_A586delinsQ has been identified in the scientific literature (PMID: 31697804), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2026).
JAK2 L624P missense unknown JAK2 L624P lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L624P is predicted to result in a conformational change in the Jak2 protein by computational modeling (PMID: 19744331), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L805V missense unknown JAK2 L805V lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). L805V has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 L884P missense gain of function - predicted JAK2 L884P lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L884P results in cytokine-independent growth in culture (PMID: 26175414), and has been demonstrated to confer resistance to Jak2 inhibitors in cultured cells (PMID: 26175414, PMID: 37290440), and therefore, is predicted to lead to a gain of Jak2 protein function. Y
JAK2 L892V missense unknown JAK2 L892V lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L892V has been identified in sequencing studies (PMID: 35966080, PMID: 36072793, PMID: 38388726), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2026).
JAK2 L941F missense unknown JAK2 L941F lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L941F has been identified in sequencing studies (PMID: 31742675, PMID: 30811597, PMID: 27997549), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 N1108S missense unknown JAK2 N1108S lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). N1108S has been identified in the scientific literature (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 N337D missense unknown JAK2 N337D lies within the FERM domain of the Jak2 protein (UniProt.org). N337D has been identified in sequencing studies (PMID: 30259120, PMID: 30811597, PMID: 36072793), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Dec 2025).
JAK2 N533I missense unknown JAK2 N533I lies within a linker region of the Jak2 protein (PMID: 29685781). N533I has been identified in the scientific literature (PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 N533Y missense unknown JAK2 N533Y lies within a linker region of the Jak2 protein (PMID: 29685781). N533Y has been identified in sequencing studies (PMID: 19074595, PMID: 36774789), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2026).
JAK2 P1057S missense unknown JAK2 P1057S lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). P1057S has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 P870L missense unknown JAK2 P870L lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). P870L has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 P870S missense unknown JAK2 P870S lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). P870S has been identified in sequencing studies (PMID: 23890154), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R1127K missense unknown JAK2 R1127K does not lie within any known functional domains of the Jak2 protein (UniProt.org). R1127K has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 R133Q missense unknown JAK2 R133Q lies within the FERM domain of the Jak2 protein (UniProt.org). R133Q has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R215Q missense unknown JAK2 R215Q lies within the FERM domain of the Jak2 protein (UniProt.org). R215Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R487C missense unknown JAK2 R487C does not lie within any known functional domains of the Jak2 protein (UniProt.org). R487C has been identified in sequencing studies (PMID: 29420467, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R541_E543delinsK indel unknown JAK2 R541_E543delinsK results in a deletion of three amino acids of the Jak2 protein from amino acids 541 to 543, combined with the insertion of a lysine (K) at the same site (UniProt.org). R541_E543delinsK has been identified in the scientific literature (PMID: 26361084, PMID: 23810504, PMID: 17920755), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R564G missense unknown JAK2 R564G lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R564G has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R564L missense unknown JAK2 R564L lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R564L is predicted to disrupt Jak2 protein conformation by structural simulation (PMID: 19744331, PMID: 39657124), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R588I missense unknown JAK2 R588I lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R588I has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R795S missense unknown JAK2 R795S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R795S has been identified in the scientific literature (PMID: 33021971, PMID: 35483882), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 R938L missense unknown JAK2 R938L lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). R938L has been demonstrated to occur as a secondary drug resistance mutation (PMID: 21926964), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 S1025C missense unknown JAK2 S1025C lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). S1025C has been demonstrated to confer Jak2 inhibitor resistance in combination with V617F and Y931C in culture (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 S126N missense unknown JAK2 S126N lies within the FERM domain of the Jak2 protein (UniProt.org). S126N has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 S15F missense unknown JAK2 S15F lies within the cytokine/interferon/growth hormone receptors-interacting region of the Jak2 protein (UniProt.org). S15F has been identified in the scientific literature (PMID: 30811597, PMID: 28561041), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 S593C missense unknown JAK2 S593C lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). S593C has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 S602I missense unknown JAK2 S602I lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). S602I has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 S797C missense unknown JAK2 S797C lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). S797C has been identified in sequencing studies (PMID: 30811597, PMID: 30337359, PMID: 29641532), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Dec 2025).
JAK2 S887I missense unknown JAK2 S887I lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). S887I has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 S958Y missense unknown JAK2 S958Y lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). S958Y has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 T246I missense unknown JAK2 T246I lies within the FERM domain of the Jak2 protein (UniProt.org). T246I has been identified in sequencing studies (PMID: 31742675, PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 T514M missense unknown JAK2 T514M lies within a linker region of the Jak2 protein (PMID: 29685781). T514M has been identified in the scientific literature (PMID: 30239046, PMID: 19074595, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 V1075F missense unknown JAK2 V1075F lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). V1075F has been demonstrated to confer Jak2 inhibitor resistance in combination with V617F and Y931C in culture (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 V392M missense unknown JAK2 V392M does not lie within any known functional domains of the Jak2 protein (UniProt.org). V392M has been identified in sequencing studies (PMID: 30811597, PMID: 24728327, PMID: 35954343), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 V563I missense unknown JAK2 V563I lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). V563I has been identified in sequencing studies (PMID: 37586297), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 V567A missense unknown JAK2 V567A lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). V567A has been identified in the scientific literature (PMID: 24728327, PMID: 19074595, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 V911A missense unknown JAK2 V911A lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). V911A has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 W737L missense unknown JAK2 W737L lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). W737L has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 Y1045W missense unknown JAK2 Y1045W lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). Y1045W has been demonstrated to confer Jak2 inhibitor resistance in combination with V617F and Y931C in culture (PMID: 26419724), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK2 Y254H missense unknown JAK2 Y254H lies within the FERM domain of the Jak2 protein (UniProt.org). Y254H has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 Y613_G614insTSY insertion unknown JAK2 Y613_G614insTSY results in the insertion of three amino acids in the protein kinase domain 1 of the Jak2 protein between amino acids 613 and 614 (UniProt.org). Y613_G614insTSY has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2026).
JAK2 Y62C missense unknown JAK2 Y62C lies within the FERM domain of the Jak2 protein (UniProt.org). Y62C has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 Y637C missense unknown JAK2 Y637C lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). Y637C has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 Y813D missense unknown JAK2 Y813D lies within a linker region of the Jak2 protein (PMID: 29685781). Y813D has been identified in the scientific literature (PMID: 19643476, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026).
JAK2 Y918H missense unknown JAK2 Y918H lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). Y918H has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2026). Y
JAK3 A1090T missense unknown JAK3 A1090T lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). A1090T has been identified in sequencing studies (PMID: 27923066, PMID: 33503190), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 A699V missense unknown JAK3 A699V lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). A699V has been identified in the scientific literature (PMID: 27369867), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 C1077F missense unknown JAK3 C1077F lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). C1077F has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 C162Y missense unknown JAK3 C162Y lies within the FERM domain of the Jak3 protein (UniProt.org). C162Y has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 D294G missense unknown JAK3 D294G lies within the FERM domain of the Jak3 protein (UniProt.org). D294G has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 D863E missense unknown JAK3 D863E lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). D863E has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 E552Q missense unknown JAK3 E552Q lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). E552Q has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 E717K missense unknown JAK3 E717K lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). E717K has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 F569Y missense unknown JAK3 F569Y lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). F569Y has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 G1057N missense unknown JAK3 G1057N lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). G1057N has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 G538D missense unknown JAK3 G538D lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). G538D has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 G888A missense unknown JAK3 G888A lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). G888A results in increased mRNA levels of JAK3, PIM1, PIM2, and PIM3 in a patient sample, but does not support cytokine-independent growth in culture (PMID: 32639993), and therefore, its effect on Jak3 protein function is unknown.
JAK3 G969V missense unknown JAK3 G969V lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). G969V has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 H1118R missense unknown JAK3 H1118R does not lie within any known functional domains of the Jak3 protein (UniProt.org). H1118R has been identified in the scientific literature (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 H583N missense unknown JAK3 H583N lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). H583N has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 I535M missense unknown JAK3 I535M lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). I535M has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 I688F missense unknown JAK3 I688F lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). I688F has been identified in the scientific literature (PMID: 29437595, PMID: 29880898, PMID: 35082828), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 I688L missense unknown JAK3 I688L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). I688L has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 K550N missense unknown JAK3 K550N lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). K550N has been identified in the scientific literature (PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 K733N missense unknown JAK3 K733N lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). K733N has been identified in the scientific literature (PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 L1091R missense unknown JAK3 L1091R lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). L1091R has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 L527R missense unknown JAK3 L527R lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). L527R has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 L679V missense unknown JAK3 L679V lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). L679V has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 L857H missense unknown JAK3 L857H lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). L857H has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 M937T missense unknown JAK3 M937T lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). M937T has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 P1086Q missense unknown JAK3 P1086Q lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). P1086Q has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 P151R missense unknown JAK3 P151R lies within the FERM domain of the Jak3 protein (UniProt.org). P151R has been identified in the scientific literature (PMID: 29681454, PMID: 27151993, PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 P307S missense unknown JAK3 P307S lies within the FERM domain of the Jak3 protein (UniProt.org). P307S has been identified in the scientific literature (PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 P396L missense unknown JAK3 P396L lies within the SH2 domain of the Jak3 protein (UniProt.org). P396L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 P420S missense unknown JAK3 P420S lies within the SH2 domain of the Jak3 protein (UniProt.org). P420S has been identified in sequencing studies (PMID: 28467829), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 P975L missense unknown JAK3 P975L lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). P975L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 Q507L missense unknown JAK3 Q507L does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q507L has been identified in sequencing studies (PMID: 26806015, PMID: 23619167), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 Q507R missense unknown JAK3 Q507R does not lie within any known functional domains of the Jak3 protein (UniProt.org). Q507R has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 Q743L missense unknown JAK3 Q743L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). Q743L has been identified in sequencing studies (PMID: 30224629), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 R1085Q missense unknown JAK3 R1085Q lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). R1085Q has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 R142C missense unknown JAK3 R142C lies within the FERM domain of the Jak3 protein (UniProt.org). R142C has been identified in the scientific literature (PMID: 32639993), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 R172W missense unknown JAK3 R172W lies within the FERM domain of the Jak3 protein (UniProt.org). R172W has been identified in sequencing studies (PMID: 25822088), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 R175Q missense unknown JAK3 R175Q lies within the FERM domain of the Jak3 protein (UniProt.org). R175Q has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 R223H missense unknown JAK3 R223H lies within the FERM domain of the Jak3 protein (UniProt.org). R223H has been identified in sequencing studies (PMID: 26444865), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 R40H missense unknown JAK3 R40H lies within the FERM domain of the Jak3 protein (UniProt.org). R40H has been identified in sequencing studies (PMID: 22037554, PMID: 35708139), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 R540H missense unknown JAK3 R540H lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). R540H has been identified in sequencing studies (PMID: 27149842, PMID: 38024597), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 R943C missense unknown JAK3 R943C lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). R943C has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 R944H missense unknown JAK3 R944H lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). R944H has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 R948C missense unknown JAK3 R948C lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). R948C has been identified in the scientific literature (PMID: 37569332, PMID: 27284958, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 R953* nonsense unknown JAK3 R953* results in a premature truncation of the Jak3 protein at amino acid 953 of 1124 (UniProt.org). R953* has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 S1124L missense unknown JAK3 S1124L does not lie within any known functional domains of the Jak3 protein (UniProt.org). S1124L has been identified in sequencing studies (Annals of Oncology (2019) 30 (Supplement 7) vii6-vii7), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 S720N missense unknown JAK3 S720N lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). S720N has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 S989I missense unknown JAK3 S989I lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). S989I has been identified in the scientific literature (PMID: 26415585), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 T1022I missense gain of function JAK3 T1022I lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). T1022I confers a gain of function on Jak3 as demonstrated by increased phosphorylation of Stat5 and Erk, and cytokine-independent growth in culture (PMID: 32639993).
JAK3 T8M missense unknown JAK3 T8M lies within the cytokine/interferon/growth hormone receptor-interacting region of the Jak3 protein (UniProt.org). T8M has been identified in sequencing studies (PMID: 24728327, PMID: 23153540), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 V674F missense unknown JAK3 V674F lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V674F has been identified in the scientific literature (PMID: 24446122, PMID: 27389054), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 V715A missense unknown JAK3 V715A lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V715A has not been characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 V715I missense unknown JAK3 V715I lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V715I has been identified in the scientific literature (PMID: 18559588), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Mar 2026).
JAK3 V718L missense unknown JAK3 V718L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V718L has been identified in sequencing studies (PMID: 29844865, PMID: 27282351, PMID: 25017477), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Jan 2026).
JAK3 W709C missense unknown JAK3 W709C lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). W709C has been identified in sequencing studies (PMID: 26806015), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 W709L missense unknown JAK3 W709L lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). W709L has been identified in sequencing studies (PMID: 22980975, PMID: 35116055), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
JAK3 Y1023H missense unknown JAK3 Y1023H lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). Y1023H has been identified in sequencing studies (PMID: 26415585, PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, Dec 2025).
KIT A402S missense unknown KIT A402S lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). A402S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT A621S missense unknown KIT A621S lies within the protein kinase domain of the Kit protein (UniProt.org). A621S has been identified in sequencing studies (PMID: 34476097), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT A755T missense unknown KIT A755T lies within the protein kinase domain of the Kit protein (UniProt.org). A755T has been identified in the scientific literature (PMID: 33579785, PMID: 27023146), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT A794E missense unknown KIT A794E lies within the protein kinase domain of the Kit protein (UniProt.org). A794E has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT C443S missense unknown KIT C443S lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). C443S has been identified in the scientific literature (PMID: 25003536), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT C809G missense unknown KIT C809G lies within the protein kinase domain of the Kit protein (UniProt.org). C809G has been associated with secondary resistance to select KIT inhibitors (PMID: 16954519), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026). Y
KIT D52N missense unknown KIT D52N lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). D52N has been identified in the scientific literature (PMID: 15167915, PMID: 26968814), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT D572N missense unknown KIT D572N lies within the cytoplasmic domain of the Kit protein (UniProt.org). D572N has been identified in sequencing studies (PMID: 21478825, PMID: 31289199), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT D572Y missense unknown KIT D572Y lies within the cytoplasmic domain of the Kit protein (UniProt.org). D572Y has been identified in sequencing studies (PMID: 10485475), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT D579G missense unknown KIT D579G lies within the cytoplasmic domain of the Kit protein (UniProt.org). D579G has been identified in the scientific literature (PMID: 35753087), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT D816_N822delinsMIDSI indel unknown KIT D816_N822delinsMIDSI results in a deletion of seven amino acids in tyrosine kinase domain region 2 (exon 17) of the Kit protein from amino acids 816 to 822, combined with the insertion of five amino acids at the same site (PMID: 17555444). D816_N822delinsMIDSI has been identified in the scientific literature (PMID: 38273969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT D816E missense unknown KIT D816E lies within the protein kinase domain of the Kit protein (UniProt.org). D816E has been identified in the scientific literature (PMID: 29100343, PMID: 29093181, PMID: 35194937) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT D820A missense gain of function - predicted KIT D820A lies within the protein kinase domain of the Kit protein (UniProt.org). D820A has been demonstrated to occur as a secondary drug resistance mutation (PMID: 16954519, PMID: 31363162), and results in reduced Kit protein expression and stability, abnormal cellular localization, but constitutive Kit phosphorylation in the absence of Pkc in cell culture (PMID: 27440273), and therefore, is predicted to lead to a gain of Kit protein function. Y
KIT D820E missense unknown KIT D820E lies within the protein kinase domain of the Kit protein (UniProt.org). D820E has been identified in the scientific literature (PMID: 29100343, PMID: 35194937), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT D820G missense unknown KIT D820G lies within the protein kinase domain of the Kit protein (UniProt.org). D820G has been associated with tyrosine kinase inhibitor resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025). Y
KIT D820H missense unknown KIT D820H lies within the protein kinase domain of the Kit protein (UniProt.org). D820H has been identified in the scientific literature (PMID: 22937135, PMID: 16741525), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT D820N missense unknown KIT D820N lies within the protein kinase domain of the Kit protein (UniProt.org). D820N has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18628470), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026). Y
KIT D820V missense unknown KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistance (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026). Y
KIT E490K missense unknown KIT E490K lies within Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). E490K has been identified in the scientific literature (PMID: 22357254), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT E53K missense unknown KIT E53K lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). E53K has been identified in sequencing studies (PMID: 17710669), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
KIT E554_K558del deletion gain of function - predicted KIT E554_K558del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 558 (PMID: 16226710). E554_K558del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT E554K missense unknown KIT E554K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). E554K has been identified in sequencing studies (PMID: 21642685, PMID: 36948401, PMID: 37774052), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT E561K missense unknown KIT E561K lies within the cytoplasmic domain of the Kit protein (UniProt.org). E561K has been identified in sequencing studies (PMID: 16770100, PMID: 29719410, PMID: 36824323), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT E562K missense unknown KIT E562K lies within the cytoplasmic domain of the Kit protein (UniProt.org). E562K has been identified in sequencing studies (PMID: 20861712), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
KIT F584S missense unknown KIT F584S lies within the cytoplasmic domain of the Kit protein (UniProt.org). F584S has been identified in sequencing studies (PMID: 11376557, PMID: 29719410), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT F811L missense unknown KIT F811L lies within the protein kinase domain of the Kit protein (UniProt.org). F811L has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT G387R missense unknown KIT G387R lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). G387R has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT G498S missense unknown KIT G498S lies within Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). G498S has been identified in the scientific literature (PMID: 31980996) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT G510C missense unknown KIT G510C lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). G510C has been identified in sequencing studies (PMID: 27626278), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT G51D missense unknown KIT G51D lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). G51D has been identified in sequencing studies (PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2026).
KIT G565* nonsense loss of function - predicted KIT G565* results in a premature truncation of the Kit protein at amino acid 565 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), G565* is predicted to lead to a loss of Kit protein function.
KIT G565R missense unknown KIT G565R lies within the cytoplasmic domain of the Kit protein (UniProt.org). G565R has been identified in the scientific literature (PMID: 39263341, PMID: 29657615, PMID: 30651371), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2026).
KIT G565V missense unknown KIT G565V lies within the cytoplasmic domain of the Kit protein (UniProt.org). G565V has been identified in the scientific literature (PMID: 28843487), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT G779C missense unknown KIT G779C lies within the protein kinase domain of the Kit protein (UniProt.org). G779C has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
KIT G812V missense unknown KIT G812V lies within the protein kinase domain of the Kit protein (UniProt.org). G812V has been identified in the scientific literature (PMID: 25960657) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT H630Y missense unknown KIT H630Y lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). H630Y has been identified in the scientific literature (PMID: 35804982, PMID: 27027238), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT H697Y missense unknown KIT H697Y lies within the protein kinase domain of the Kit protein (UniProt.org). H697Y has been identified in the scientific literature (PMID: 19861435), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT I563_L576del deletion gain of function - predicted KIT I563_L576del results in the deletion of 14 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 563 to 576 (PMID: 16226710). I563_L576del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT I571_D579dup duplication unknown KIT I571_D579dup (also referred to as D579_H580insIDPTQLPYD) indicates the insertion of nine duplicate amino acids, isoleucine (I)-571 through aspartic acid (D)-579, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). I571_D579dup has been identified in sequencing studies (PMID: 19768731, PMID: 23291969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT I571V missense unknown KIT I571V lies within the cytoplasmic domain of the Kit protein (UniProt.org). I571V has been identified in sequencing studies (PMID: 24983367) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT I653T missense unknown KIT I653T lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). I653T has been identified in the scientific literature (PMID: 21690468), but has not been been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT I748D missense unknown KIT I748D lies within the protein kinase domain of the Kit protein (UniProt.org). I748D is associated with resistance to KIT inhibitors (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026). Y
KIT I798T missense unknown KIT I798T lies within the protein kinase domain of the Kit protein (UniProt.org). I798T has been identified in scientific literature (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT I817L missense unknown KIT I817L lies within the protein kinase domain of the Kit protein (UniProt.org). I817L has been identified in the scientific literature (PMID: 26424760, PMID: 29191620, PMID: 19369623), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT K509R missense unknown KIT K509R lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509R has been identified in sequencing studies (PMID: 27214377), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K550_V555del deletion gain of function - predicted KIT K550_V555del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 555 (PMID: 16226710). KIT K550_V555del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT K558_V559delinsN indel gain of function - predicted KIT K558_V559delinsN results in a deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 559, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_V559delinsN is associated with resistance to KIT inhibitors (PMID: 38408285) and has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function. Y
KIT K558_V559insNP insertion unknown KIT K558_V559insNP results in an insertion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 558 and 559 (PMID: 16226710). K558_V559insNP has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT K558E missense unknown KIT K558E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558E has been identified in sequencing studies (PMID: 21387320, PMID: 21326036, PMID: 19264228), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K558N missense unknown KIT K558N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558N has been identified in the scientific literature (PMID: 21326036, PMID: 18294292, PMID: 34338390), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K558Q missense unknown KIT K558Q lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558Q has been identified in the scientific literature (PMID: 19333543, PMID: 19182535), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K558R missense unknown KIT K558R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558R has been identified in the scientific literature (PMID: 21569090, PMID: 40218274), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K581_W582insDPTQLPYDH insertion unknown KIT K581_W582insDPTQLPYDH results in the insertion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 581 and 582 (PMID: 16226710). K581_W582insDPTQLPYDH has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT K642N missense unknown KIT K642N lies within the protein kinase domain of the Kit protein (UniProt.org). K642N has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K642Q missense unknown KIT K642Q lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). K642Q has been identified in sequencing studies (PMID: 28327988), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT K818R missense unknown KIT K818R lies within the protein kinase domain of the Kit protein (UniProt.org). K818R has been identified in sequencing studies (PMID: 17566038), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT L576_H580dup duplication unknown KIT L576_H580dup indicates the insertion of five duplicate amino acids, leucine (L)-576 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_H580dup has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2026).
KIT L576_K581dup duplication unknown KIT L576_K581dup indicates the insertion of six duplicate amino acids, leucine (L)-576 through lysine (K)-581, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_K581dup has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2026).
KIT L576_P585dup duplication unknown KIT L576_P585dup (also referred to as P585_R586insLPYDHKWEFP) indicates the insertion of 10 duplicate amino acids, leucine (L)-576 through proline (P)-585, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_P585dup has been identified in sequencing studies (PMID: 26822237), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jan 2026).
KIT L576F missense unknown KIT L576F lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576F has been identified in sequencing studies (PMID: 21325067, PMID: 26774193, PMID: 17145623), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT L576R missense unknown KIT L576R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576R has been identified in the scientific literature (PMID: 28843487, PMID: 28026870), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT L631F missense unknown KIT L631F lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). L631F has been identified in the scientific literature (PMID: 28843487), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT L813_A814insHIV insertion unknown KIT L813_A814insHIV results in the insertion of three amino acids in the protein kinase domain of the Kit protein between amino acids 813 and 814 (UniProt.org). L813_A814insHIV has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT L813_V824dup duplication unknown KIT L813_V824dup indicates the insertion of 12 duplicate amino acids, leucine (L)-813 through valine (V)-824, in the protein kinase domain of the Kit protein (UniProt.org). L813_V824dup has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT L859F missense unknown KIT L859F lies within the protein kinase domain of the Kit protein (UniProt.org). L859F has been identified in sequencing studies (PMID: 32286303), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT L859S missense unknown KIT L859S lies within the protein kinase domain of the Kit protein (UniProt.org). L859S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT M1? unknown unknown KIT M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Kit protein. M1? has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT M541V missense unknown KIT M541V lies within the transmembrane domain of the Kit protein (PMID: 16226710). M541V has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
KIT M552_E554del deletion gain of function - predicted KIT M552_E554del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554 (PMID: 12879016). M552_E554del has not been characterized however, similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT M552L missense unknown KIT M552L lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). M552L has been identified in sequencing studies (PMID: 12759497), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT N463S missense unknown KIT N463S lies within Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N463S has been identified in sequencing studies (PMID: 21642685, PMID: 38348622), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT N560_Y574del deletion gain of function - predicted KIT N560_Y574del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 574 (PMID: 16226710). N560_Y574del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT N564_L576del deletion gain of function - predicted KIT N564_L576del results in the deletion of 13 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 564 to 576 (PMID: 16226710). N564_L576del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT N564_Y578del deletion gain of function - predicted KIT N564_Y578del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 564 to 578 (PMID: 16226710). N564_Y578del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT N566D missense unknown KIT N566D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N566D has been identified in sequencing studies (PMID: 16908931, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT N567K missense unknown KIT N567K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). N567K has been identified in sequencing studies (PMID: 15217946), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT N80S missense unknown KIT N80S lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). N80S has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT N822H missense unknown KIT N822H lies within the protein kinase domain of the Kit protein (UniProt.org). N822H has been identified in sequencing studies (PMID: 11719439, PMID: 17875769, PMID: 32697050), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT P551_E554delinsQ indel gain of function - predicted KIT P551_E554delinsQ results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 554, combined with the insertion of a glutamine (Q) at the same site (PMID: 16226710). P551_E554delinsQ has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT P551H missense unknown KIT P551H lies within the juxtamembrane domain of the Kit protein (PMID: 16226710). P551H has been identified in sequencing studies (PMID: 17200352, PMID: 15930355) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT P551I missense unknown KIT P551I lies within the juxtamembrane domain of the Kit protein (PMID: 16226710). P551I has been identified in the scientific literature (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT P551L missense unknown KIT P551L lies within the juxtamembrane domain of the Kit protein (PMID: 16226710). P551L has been identified in sequencing studies (PMID: 21325067, PMID: 18729075), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT P573L missense unknown KIT P573L lies within the juxtamembrane domain of the Kit protein (PMID: 12879016). P573L has been identified in the scientific literature (PMID: 30171333, PMID: 21680547), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT P577_E583dup duplication unknown KIT P577_E583dup (also referred to as E583_F584insPYDHKWE) indicates the insertion of seven duplicate amino acids, proline (P)-577 through glutamic acid (E)-583, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_E583dup has been identified in sequencing studies (PMID: 19768731), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT P577_H580dup duplication unknown KIT P577_H580dup (also referred to as H580_K581insPYDH) indicates the insertion of four duplicate amino acids, proline (P)-577 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). P577_H580dup has been identified in sequencing studies (PMID: 18006774, PMID: 23291969, PMID: 19768731), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT P577S missense unknown KIT P577S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). P577S has been identified in sequencing studies (PMID: 22261812, PMID: 26774193, PMID: 37305871), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT P838L missense unknown KIT P838L lies within the protein kinase domain of the Kit protein (UniProt.org). P838L has been identified in sequencing studies (PMID: 21642685) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT Q556_K558delinsE indel gain of function - predicted KIT Q556_K558delinsE results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 558, combined with the insertion of a glutamic acid (E) at the same site (PMID: 16226710). Q556_K558delinsE has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT R634L missense unknown KIT R634L lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). R634L has been identified in the scientific literature (PMID: 28843487), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT R804W missense unknown KIT R804W lies within the activation loop in the kinase domain of the Kit protein (PMID: 21478825). R804W is predicted to have lower binding affinity for imatinib relative to wild-type Kit protein (PMID: 20140688), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT R888W missense unknown KIT R888W lies within the protein kinase domain of the Kit protein (UniProt.org). R888W has been identified in sequencing studies (PMID: 31768065, PMID: 30393068) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT S501_A502insSAY insertion unknown KIT S501_A502insSAY results in an insertion of three amino acids in the Ig-like C2-type 5 domain (exon 9) of the Kit protein between amino acids 501 and 502 (UniProt.org). S501_A502insSAY has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT S645_L647dup duplication unknown KIT S645_L647dup (also referred to as L647_G648insSYL) indicates the insertion of three duplicate amino acids, serine (S)-645 through leucine (L)-647, in the protein kinase domain of the Kit protein (UniProt.org). S645_L647dup is associated with resistance to KIT inhibitors (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025). Y
KIT S709F missense unknown KIT S709F lies within the protein kinase domain of the Kit protein (UniProt.org). S709F has been identified in the scientific literature (PMID: 30140695), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT S715del deletion unknown KIT S715del results in the deletion of an amino acid within the protein kinase domain of the Kit protein at amino acid 715 (UniProt.org). S715del has been identified in sequencing studies (PMID: 11786393), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Dec 2025).
KIT T22A missense unknown KIT T22A lies within the signal peptide region of the Kit protein (UniProt.org). T22A has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT T574_H580dup duplication unknown KIT T574_H580dup indicates the insertion of seven duplicate amino acids, threonine (T)-574 through histidine (H)-580, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). T574_H580dup has been identified in sequencing studies (PMID: 30101387), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2025).
KIT T574_P577del deletion gain of function - predicted KIT T574_P577del (also referred to as P573_L576del) results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 574 to 577 (PMID: 16226710). T574_P577del is associated with resistance to KIT inhibitors (PMID: 38408285) and has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function. Y
KIT T632I missense unknown KIT T632I lies within the protein kinase domain of the Kit protein (UniProt.org). T632I is associated with resistance to select KIT inhibitors (PMID: 31043947), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026). Y
KIT T670E missense unknown KIT T670E lies within the protein kinase domain of the Kit protein (UniProt.org). T670E has been identified in sequencing studies (PMID: 25886408, PMID: 19834613, PMID: 35194937), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT T670S missense unknown KIT T670S lies within the protein kinase domain of the Kit protein (UniProt.org). T670S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
KIT T670V missense unknown KIT T670V lies within the protein kinase domain of the Kit protein (UniProt.org). T670V has been identified in the scientific literature (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Feb 2026).
KIT T67S missense unknown KIT T67S lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). T67S has been identified in sequencing studies (PMID: 27601595), but has not been biochemically characterized and therefore, its effect on the Kit protein function is unknown (PubMed, May 2026).
KIT V399I missense unknown KIT V399I lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). V399I has been identified in sequencing studies (PMID: 15150569, PMID: 29483209, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V532I missense unknown KIT V532I lies within the transmembrane domain of the Kit protein (UniProt.org). V532I has been identified in the scientific literature (PMID: 30446805, PMID: 25894969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V555_Q556del deletion gain of function - predicted KIT V555_Q556del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 556 (PMID: 16226710). V555_Q556del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT V555I missense unknown KIT V555I lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V555I has been identified in the scientific literature (PMID: 30851333, PMID: 32944848, PMID: 35642348), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V559C missense unknown KIT V559C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V559C has been identified in sequencing studies (PMID: 25695690, PMID: 15869870), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V559K missense unknown KIT V559K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V559K has been identified in sequencing studies (PMID: 20861712), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V560_L576del deletion gain of function - predicted KIT V560_L576del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 576 (PMID: 16226710). V560_L576del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT V560dup duplication unknown KIT V560dup indicates the insertion of the duplicate amino acid, valine (V)-560, in the juxtamembrane domain of the Kit protein (PMID: 16226710). V560dup has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V560E missense unknown KIT V560E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V560E has been identified in the scientific literature (PMID: 25695690, PMID: 34250403, PMID: 35982969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT V603D missense unknown KIT V603D lies within the protein kinase domain of the Kit protein (UniProt.org). V603D has been identified in the scientific literature (PMID: 33747576), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V643A missense unknown KIT V643A lies within the protein kinase domain of the Kit protein (UniProt.org). V643A has been identified in sequencing studies (PMID: 19617878), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V654G missense unknown KIT V654G lies within the protein kinase domain of the Kit protein (UniProt.org). V654G is associated with resistance to KIT inhibitors (PMID: 38408285), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026). Y
KIT V825A missense unknown KIT V825A lies within the protein kinase domain of the Kit protein (UniProt.org). V825A leads to cell growth when combined with RUNX1-ETO (PMID: 24897507), but has not been individually characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT V825I missense unknown KIT V825I lies within the protein kinase domain of the Kit protein (UniProt.org). V825I has been identified in sequencing studies (PMID: 16460801, PMID: 37046732), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT W557_V559delinsF indel gain of function - predicted KIT W557_V559delinsF results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 559, combined with the insertion of a phenylalanine (F) at the same site (PMID: 16226710). KIT W557_V559delinsF has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
KIT W557C missense unknown KIT W557C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557C has been identified in the scientific literature (PMID: 28327988), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT W557F missense unknown KIT W557F lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557F has been identified in the scientific literature (PMID: 19585585), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT W557R missense unknown KIT W557R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15790786). W557R has been identified in the scientific literature (PMID: 37371685, PMID: 37311038, PMID: 26848617) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT W557S missense unknown KIT W557S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557S has been identified in sequencing studies (PMID: 17438095), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT W853* nonsense unknown KIT W853* results in a premature truncation of the Kit protein at amino acid 853 of 976 (UniProt.org). W853* has been identified in sequencing studies (PMID: 21325067), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y503delinsFAH indel unknown KIT Y503delinsFAH results in the deletion of a tyrosine (Y) at amino acid 503 within Ig-like C2-type domain 5 (exon 9) of the Kit protein, combined with the insertion of three amino acids at the same site (UniProt.org). Y503delinsFAH has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Dec 2025).
KIT Y553C missense gain of function - predicted KIT Y553C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553C is predicted to lead to a gain of Kit protein function as a corresponding mouse variant (Y552C) results in IL3-independent growth in cultured cells (PMID: 22083669).
KIT Y553D missense unknown KIT Y553D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553D has been identified in sequencing studies (PMID: 37125020, PMID: 37774052, PMID: 37403699), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT Y553N missense unknown KIT Y553N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553N is predicted to stabilize the active conformation of Kit by structural modeling (PMID: 23588081), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y553S missense unknown KIT Y553S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553S has been identified in the scientific literature (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y568D missense unknown KIT Y568D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 23416972). Y568D has been identified in sequencing studies (PMID: 28334439, PMID: 38409885), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y570H missense unknown KIT Y570H lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y570H has been identified in sequencing studies (PMID: 21642685), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y578_D579insEQQLPY insertion unknown KIT Y578_D579insEQQLPY results in the insertion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein between amino acids 578 and 579 (PMID: 16226710). Y578_D579insEQQLPY has not been characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y646D missense unknown KIT Y646D lies within the protein kinase domain of the Kit protein (UniProt.org). Y646D has been identified in sequencing studies (PMID: 34242401, PMID: 28734009), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2026).
KIT Y672C missense unknown KIT Y672C lies within the protein kinase domain of the Kit protein (UniProt.org). Y672C is associated with decreased KIT inhibitor sensitivity when in the context of an activating KIT mutation in culture (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y823C missense unknown KIT Y823C lies within the protein kinase domain of the Kit protein (UniProt.org). Y823C has been identified in sequencing studies (PMID: 14695343), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y823H missense unknown KIT Y823H lies within the protein kinase domain of the Kit protein (UniProt.org). Y823H has been identified in sequencing studies (PMID: 23014346), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KIT Y823N missense unknown KIT Y823N lies within the protein kinase domain of the Kit protein (UniProt.org). Y823N has been identified in the scientific literature (PMID: 16741525, PMID: 25148223), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
KIT Y870* nonsense unknown KIT Y870* results in a premature truncation of the Kit protein at amino acid 870 of 976 (UniProt.org). Y870* has been identified in sequencing studies (PMID: 35041493), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, May 2026).
KMT2A A2571V missense unknown KMT2A A2571V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). A2571V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A A3737V missense unknown KMT2A A3737V lies within the FYR C-terminal domain of the Kmt2a protein (UniProt.org). A3737V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A C1173R missense unknown KMT2A C1173R lies within the CXXC-type zinc finger domain of the Kmt2a protein (UniProt.org). C1173R has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A D2295N missense unknown KMT2A D2295N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). D2295N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A D2384E missense unknown KMT2A D2384E does not lie within any known functional domains of the Kmt2a protein (UniProt.org). D2384E has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A D3876N missense unknown KMT2A D3876N lies within the SET domain of the Kmt2a protein (UniProt.org). D3876N has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A D3921Y missense unknown KMT2A D3921Y lies within the SET domain of the Kmt2a protein (UniProt.org). D3921Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A D505N missense unknown KMT2A D505N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). D505N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A E1060D missense unknown KMT2A E1060D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E1060D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A E1984K missense unknown KMT2A E1984K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E1984K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A E2416K missense unknown KMT2A E2416K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E2416K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A E2986K missense unknown KMT2A E2986K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E2986K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A E3448K missense unknown KMT2A E3448K does not lie within any known functional domains of the Kmt2a protein (UniProt.org). E3448K has been identified in sequencing studies (PMID: 22810696, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A E3938K missense unknown KMT2A E3938K lies within the SET domain of the Kmt2a protein (UniProt.org). E3938K has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A F1458S missense unknown KMT2A F1458S lies within PHD-type zinc finger domain 1 of the Kmt2a protein (UniProt.org). F1458S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A F1481L missense unknown KMT2A F1481L lies within PHD-type zinc finger domains 1 and 2 of the Kmt2a protein (UniProt.org). F1481L has been identified in sequencing studies (PMID: 32332851), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A F663V missense unknown KMT2A F663V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). F663V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A G2349S missense unknown KMT2A G2349S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G2349S has been identified in sequencing studies (PMID: 33395407), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A G2610D missense unknown KMT2A G2610D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G2610D has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A G3376D missense unknown KMT2A G3376D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G3376D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A G3842S missense unknown KMT2A G3842S lies within the SET domain of the Kmt2a protein (UniProt.org). G3842S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A G3899V missense unknown KMT2A G3899V lies within the SET domain of the Kmt2a protein (UniProt.org). G3899V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A G606E missense unknown KMT2A G606E does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G606E has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A H3907D missense unknown KMT2A H3907D lies within the SET domain of the Kmt2a protein (UniProt.org). H3907D has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A K1103N missense unknown KMT2A K1103N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K1103N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A K1256Q missense unknown KMT2A K1256Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K1256Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A K1321T missense unknown KMT2A K1321T does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K1321T has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A K1457N missense unknown KMT2A K1457N lies within PHD-type zinc finger domain 1 of the Kmt2a protein (UniProt.org). K1457N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A K2276T missense unknown KMT2A K2276T does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K2276T has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A K246N missense unknown KMT2A K246N does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K246N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A K254Q missense unknown KMT2A K254Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). K254Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A L3153V missense unknown KMT2A L3153V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). L3153V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A L597V missense unknown KMT2A L597V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). L597V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A M2213V missense unknown KMT2A M2213V does not lie within any known functional domains of the Kmt2a protein (UniProt.org). M2213V has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A N3084S missense unknown KMT2A N3084S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). N3084S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A P2148S missense unknown KMT2A P2148S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2148S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A P2846H missense unknown KMT2A P2846H does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2846H has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A P2928L missense unknown KMT2A P2928L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2928L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A P2946S missense unknown KMT2A P2946S does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P2946S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A P3095Q missense unknown KMT2A P3095Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3095Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A P3407L missense unknown KMT2A P3407L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). P3407L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R1532C missense unknown KMT2A R1532C lies within PHD-type zinc finger domain 2 of the Kmt2a protein (UniProt.org). R1532C has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A R1976Q missense unknown KMT2A R1976Q lies within PHD-type zinc finger domain 4 of the Kmt2a protein (UniProt.org). R1976Q has been identified in sequencing studies (PMID: 35307972), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R2093M missense unknown KMT2A R2093M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2093M has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R2160Q missense unknown KMT2A R2160Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2160Q has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R2619C missense unknown KMT2A R2619C does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2619C has been identified in sequencing studies (PMID: 22895193, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A R3656W missense unknown KMT2A R3656W does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R3656W has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R3741Q missense unknown KMT2A R3741Q lies within the FYR C-terminal domain of the Kmt2a protein (UniProt.org). R3741Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R3864C missense unknown KMT2A R3864C lies within the SET domain of the Kmt2a protein (UniProt.org). The functional effect of R3864C is conflicting, as it demonstrates increased histone methyltransferase activity in isolation, but decreased activity in the presence of WRA complex stimulation compared to wild-type Kmt2a in in vitro assays (PMID: 28182322), and therefore, its effect on Kmt2a protein function is unknown.
KMT2A R3886* nonsense unknown KMT2A R3886* results in a premature truncation of the Kmt2a protein at amino acid 3886 of 3969 (UniProt.org). R3886* has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A R3903C missense unknown KMT2A R3903C lies within the SET domain of the Kmt2a protein (UniProt.org). R3903C has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R3932H missense unknown KMT2A R3932H lies within the SET domain of the Kmt2a protein (UniProt.org). R3932H has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R3965W missense unknown KMT2A R3965W lies within the Post-SET domain of the Kmt2a protein (UniProt.org). R3965W has not been characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R427W missense unknown KMT2A R427W does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R427W has been identified in sequencing studies (PMID: 37901334), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A R736M missense unknown KMT2A R736M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R736M has been identified in sequencing studies (PMID: 22810696, PMID: 32732356), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A R933Q missense unknown KMT2A R933Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R933Q has been identified in sequencing studies (PMID: 22895193, PMID: 31645765), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S1062Y missense unknown KMT2A S1062Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1062Y has been identified in sequencing studies (PMID: 24755471, PMID: 32332851), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S1152L missense unknown KMT2A S1152L lies within the CXXC-type zinc finger domain of the Kmt2a protein (UniProt.org). S1152L has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A S1643Y missense unknown KMT2A S1643Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1643Y has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Nov 2025).
KMT2A S1685F missense unknown KMT2A S1685F does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S1685F has not been characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A S2690Y missense unknown KMT2A S2690Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S2690Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S2771Y missense unknown KMT2A S2771Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S2771Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S2785Y missense unknown KMT2A S2785Y does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S2785Y has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S3120L missense unknown KMT2A S3120L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3120L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S3377L missense unknown KMT2A S3377L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3377L has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A S3576F missense unknown KMT2A S3576F does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S3576F has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jan 2026).
KMT2A S466A missense unknown KMT2A S466A does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S466A has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A S534L missense unknown KMT2A S534L does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S534L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A S902R missense unknown KMT2A S902R does not lie within any known functional domains of the Kmt2a protein (UniProt.org). S902R has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Dec 2025).
KMT2A T3868N missense unknown KMT2A T3868N lies within the SET domain of the Kmt2a protein (UniProt.org). T3868N has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A V2178A missense unknown KMT2A V2178A does not lie within any known functional domains of the Kmt2a protein (UniProt.org). V2178A has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A V2246G missense unknown KMT2A V2246G does not lie within any known functional domains of the Kmt2a protein (UniProt.org). V2246G has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
KMT2A Y3883S missense unknown KMT2A Y3883S lies within the SET domain of the Kmt2a protein (UniProt.org). Y3883S has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026).
MAP2K1 A158T missense unknown MAP2K1 A158T lies within the protein kinase domain of the Map2k1 protein (UniProt.org). A158T has been identified in the scientific literature (PMID: 25256751), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2026).
MAP2K1 A347T missense unknown MAP2K1 A347T lies within the protein kinase domain of the Map2k1 protein (UniProt.org). A347T has not been characterized in the scientific literature and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 A390T missense unknown MAP2K1 A390T does not lie within any known functional domains of the Map2k1 protein (UniProt.org). A390T has been identified in sequencing studies (PMID: 29340109), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 A76T missense unknown MAP2K1 A76T lies within the protein kinase domain of the Map2k1 protein (UniProt.org). A76T has been identified in sequencing studies (PMID: 32361034), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2026).
MAP2K1 C121G missense unknown MAP2K1 C121G lies within the protein kinase domain of the Map2k1 protein (UniProt.org). C121G has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2026).
MAP2K1 D136Y missense unknown MAP2K1 D136Y lies within the protein kinase domain of the Map2k1 protein (UniProt.org). D136Y has not been characterized in the scientific literature and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 D351N missense unknown MAP2K1 D351N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). D351N has been identified in sequencing studies (PMID: 25363767), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 E320A missense unknown MAP2K1 E320A lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E320A has not been characterized in the scientific literature and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2025).
MAP2K1 E41_F53del deletion unknown MAP2K1 E41_F53del results in the deletion of 13 amino acids in the Map2k1 protein from amino acids 41 to 53 (UniProt.org). E41_F53del has been identified in the scientific literature (PMID: 32483240, PMID: 33289976), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Dec 2025).
MAP2K1 F53C missense gain of function MAP2K1 F53C lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53C confers a gain of function to Map2k1 as demonstrated by increased Erk1/2 phosphorylation (PMID: 30341394) and transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and is associated with resistance to BRAF inhibitors (PMID: 30341394, PMID: 36442478). Y
MAP2K1 F68L missense unknown MAP2K1 F68L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). F68L has been identified in the scientific literature (PMID: 26566875), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2026).
MAP2K1 G128C missense unknown MAP2K1 G128C lies within the protein kinase domain of the Map2k1 protein (UniProt.org). G128C has been identified in sequencing studies (PMID: 30933438, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 G128R missense unknown MAP2K1 G128R lies within the protein kinase domain of the Map2k1 protein (UniProt.org). G128R has been identified in sequencing studies (PMID: 30933438), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Dec 2025).
MAP2K1 G301* nonsense unknown MAP2K1 G301* results in a premature truncation of the Map2k1 protein at amino acid 301 of 393 (UniProt.org). G301* has not been characterized in the scientific literature and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2026).
MAP2K1 H119P missense unknown MAP2K1 H119P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). H119P has been described as a drug resistance mutation (PMID: 19915144), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2025). Y
MAP2K1 I141S missense unknown MAP2K1 I141S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I141S has been demonstrated to confer resistance to Braf inhibitors in the context of BRAF G469V (PMID: 34737188), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, May 2026). Y
MAP2K1 I99M missense unknown MAP2K1 I99M lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I99M has been identified in the scientific literature (PMID: 31925410), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 K57T missense gain of function MAP2K1 K57T lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57T confers a gain of function to Map2k1 as demonstrated by increased Erk1/2 phosphorylation (PMID: 30341394, PMID: 32641410) and transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and occurs as a secondary drug resistance mutation in the context of BRAF inhibitors (PMID: 26644315, PMID: 28819429, PMID: 30341394). Y
MAP2K1 L115R missense unknown MAP2K1 L115R lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115R has been described as a drug resistance mutation (PMID: 19915144), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2025). Y
MAP2K1 L177M missense gain of function MAP2K1 L177M lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L177M confers a gain of function to the Map2k1 protein as indicated by a moderate increase in basal Erk signaling, sensitivity to Raf pathway activation (PMID: 29483135), and increased Erk phosphorylation in cultured cells (PMID: 32641410).
MAP2K1 L177V missense gain of function - predicted MAP2K1 L177V lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L177V results in phosphorylation of Erk (PMID: 32641410, PMID: 29483135) and phosphorylation of Mek in culture (PMID: 29483135), and therefore, is predicted to lead to a gain of Map2k1 protein function.
MAP2K1 P105_I107del deletion unknown MAP2K1 P105_I107del results in the deletion of three amino acids in the protein kinase domain of the Map2k1 protein from amino acids 105 to 107 (UniProt.org). P105_I107del has been identified in the scientific literature (PMID: 30867592), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Dec 2025).
MAP2K1 P124M missense unknown MAP2K1 P124M lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P124M has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2025).
MAP2K1 P264L missense unknown MAP2K1 P264L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P264L has been demonstrated to confer resistance to Raf inhibitors in the context of BRAF V600E in culture (PMID: 28986383), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2025). Y
MAP2K1 P387S missense gain of function MAP2K1 P387S does not lie within any known functional domains of the Map2k1 protein (UniProt.org). P387S confers a gain of function to the Map2k1 protein as demonstrated by constitutive phosphorylation of Mek and Erk (PMID: 22389471).
MAP2K1 Q354H missense unknown MAP2K1 Q354H lies within the protein kinase domain of the Map2k1 protein (UniProt.org). Q354H has been identified in sequencing studies (PMID: 30111351, PMID: 38388726), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Mar 2026).
MAP2K1 R260M missense unknown MAP2K1 R260M lies within the protein kinase domain of the Map2k1 protein (UniProt.org). R260M has not been characterized in the scientific literature and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 S123P missense unknown MAP2K1 S123P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S123P has been identified in the scientific literature (PMID: 26566875), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 S194P missense gain of function MAP2K1 S194P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S194P results in increased autophosphorylation, Erk1/2 phosphorylation, and proliferation in culture (PMID: 39313591), and has been demonstrated to confer resistance to Raf and Mek inhibitors in the context of BRAF V600E in culture (PMID: 39424923). Y
MAP2K1 V211A missense unknown MAP2K1 V211A lies within the protein kinase domain of the Map2k1 protein (UniProt.org). V211A has not been characterized in the scientific literature and therefore, its effect on Map2k1 protein function is unknown (PubMed, Oct 2025).
MAP2K1 V60E missense gain of function MAP2K1 V60E does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60E confers a gain of function to Map2k1 as demonstrated by increased Erk signaling (PMID: 28263969), transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and tumor formation in orthotopic mouse models (PMID: 28263969), and demonstrates resistance to some Braf inhibitors (PMID: 24265153, PMID: 28263969, PMID: 36442478). Y
MAP2K1 W247* nonsense unknown MAP2K1 W247* results in a premature truncation of the Map2k1 protein at amino acid 247 of 393 (UniProt.org). W247* demonstrates slower growth than wild-type in low nutrient cell culture (PMID: 36442478), but has not been fully biochemically characterized and therefore, its effect on Map2k1 protein function is unknown.
MLH1 A120S missense unknown MLH1 A120S lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A120S has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Sep 2025).
MLH1 A20V missense unknown MLH1 A20V lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A20V has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 A210T missense unknown MLH1 A210T lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A210T has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Sep 2025).
MLH1 A410T missense unknown MLH1 A410T lies within the EXO1-interacting region of the Mlh1 protein (PMID: 22753075). A410T has been identified in sequencing studies (PMID: 26401016), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Sep 2025).
MLH1 A92T missense unknown MLH1 A92T lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A92T has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 C233R missense unknown MLH1 C233R lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). C233R has been identified in sequencing studies (PMID: 34513290), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 D41N missense unknown MLH1 D41N lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). D41N has been identified in sequencing studies (PMID: 25233892), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 D41Y missense unknown MLH1 D41Y lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). D41Y has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 D631H missense unknown MLH1 D631H lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). D631H has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 D72Y missense unknown MLH1 D72Y lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). D72Y has been identified in sequencing studies (PMID: 22941189, PMID: 37960754), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 D737V missense unknown MLH1 D737V lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). D737V has been identified in sequencing studies (PMID: 23760103, PMID: 16341550), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jun 2025).
MLH1 E172K missense unknown MLH1 E172K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E172K has been identified in the scientific literature (PMID: 27998968, PMID: 37296477), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 E199K missense unknown MLH1 E199K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E199K has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Nov 2025).
MLH1 E319K missense unknown MLH1 E319K lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). E319K has been identified in the scientific literature (PMID: 31187078), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Feb 2026).
MLH1 E605del deletion unknown MLH1 E605del results in the deletion of an amino acid in the C-terminal dimerization domain of the Mlh1 protein at amino acid 605 (PMID: 22753075). E605del results in intermediate protein expression compared to wild-type in culture but demonstrates mismatch repair activity comparable to wild-type in an in vitro assay (PMID: 25477341), and therefore, its effect on Mlh1 protein function is unknown.
MLH1 E703A missense unknown MLH1 E703A lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). E703A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Feb 2026).
MLH1 E754Q missense unknown MLH1 E754Q does not lie within any known functional domains of the Mlh1 protein (UniProt.org). E754Q has been identified in sequencing studies (PMID: 30982232), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 G101S missense loss of function - predicted MLH1 G101S lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). G101S results in reduced mismatch repair activity compared to wild-type Mlh1 in an in vitro assay (PMID: 30504929), and therefore, is predicted to lead to a loss of Mlh1 protein function.
MLH1 G357A missense unknown MLH1 G357A does not lie within any known functional domains of the Mlh1 protein (UniProt.org). G357A has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Feb 2026).
MLH1 G532C missense unknown MLH1 G532C lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). G532C has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 H109D missense unknown MLH1 H109D lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H109D has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 H315Y missense unknown MLH1 H315Y lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H315Y has not been characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 H543R missense unknown MLH1 H543R lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). H543R has not been characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 I190T missense unknown MLH1 I190T lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I190T has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 I262M missense unknown MLH1 I262M lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). I262M has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 I565M missense unknown MLH1 I565M lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I565M has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 I630S missense unknown MLH1 I630S lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). I630S has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 K241N missense unknown MLH1 K241N lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). K241N has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2025).
MLH1 K254N missense unknown MLH1 K254N lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). K254N has been identified in sequencing studies (PMID: 25808843), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, May 2026).
MLH1 K618E missense unknown MLH1 K618E lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). K618E has been identified in the scientific literature (PMID: 30998989), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Oct 2025).
MLH1 L155P missense unknown MLH1 L155P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). L155P has been identified in sequencing studies (PMID: 24686850), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Feb 2026).
MLH1 L550I missense unknown MLH1 L550I lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L550I has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 L588R missense unknown MLH1 L588R lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L588R has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 L590I missense unknown MLH1 L590I lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L590I has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 L658I missense unknown MLH1 L658I lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). L658I has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 M383V missense unknown MLH1 M383V does not lie within any known functional domains of the Mlh1 protein (UniProt.org). M383V has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 M524I missense unknown MLH1 M524I lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (UniProt.org). M524I has been identified in the scientific literature (PMID: 31273885, PMID: 35932099), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 M587V missense unknown MLH1 M587V lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (UniProt.org). M587V has been identified in sequencing studies (PMID: 18206535), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 N187Y missense unknown MLH1 N187Y lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). N187Y has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 P640L missense loss of function - predicted MLH1 P640L lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P640L results in deficient mismatch repair (MMR) in cultured cells as indicated by increased DNA slippage error rates and methylation-induced mutagenesis rates in cultured cells (PMID: 31784484), and therefore, is predicted to lead to a loss of Mlh1 protein function.
MLH1 P640S missense loss of function - predicted MLH1 P640S lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P640S results in defective binding with Pms2 in a yeast-two-hybrid assay (PMID: 21404117) and decreased MMR in cultured cells (PMID: 31784484), and therefore, is predicted to lead to a loss of Mlh1 protein function.
MLH1 P709Q missense unknown MLH1 P709Q lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). P709Q has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 Q26R missense unknown MLH1 Q26R lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). Q26R has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 Q391R missense unknown MLH1 Q391R does not lie within any known functional domains of the Mlh1 protein (UniProt.org). Q391R has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 Q48E missense unknown MLH1 Q48E lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). Q48E has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 Q60P missense loss of function - predicted MLH1 Q60P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). Q60P results in partial loss of DNA mismatch repair activity in a yeast assay (PMID: 15475387), and therefore, is predicted to lead to a loss of Mlh1 protein function.
MLH1 R325W missense unknown MLH1 R325W lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R325W has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 R389W missense unknown MLH1 R389W does not lie within any known functional domains of the Mlh1 protein (UniProt.org). R389W has been identified in the scientific literature (PMID: 28642281), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 R487L missense unknown MLH1 R487L lies within the EXO1-interacting region of the Mlh1 protein (PMID: 22753075). R487L has been identified in sequencing studies (PMID: 36531003), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 R522W missense unknown MLH1 R522W lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R522W results in intermediate protein expression compared to wild-type in culture but demonstrates mismatch repair activity similar to wild-type in an in vitro assay (PMID: 23403630), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown.
MLH1 R575G missense unknown MLH1 R575G lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R575G has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 R725C missense unknown MLH1 R725C lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R725C demonstrates binding to Pms2 similar to wild-type Mlh1 in yeast assays (PMID: 22252508), but has not been fully biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 R725H missense unknown MLH1 R725H lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R725H results in similar viability and caspase-3/7 levels, but varied levels of ATM/ATR phosphorylation and gH2AX foci induction compared to wild-type Mlh1 (PMID: 28494185), and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2025).
MLH1 R9Q missense unknown MLH1 R9Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 S271F missense unknown MLH1 S271F lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). S271F has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 S368L missense unknown MLH1 S368L does not lie within any known functional domains of the Mlh1 protein (UniProt.org). S368L has been identified in sequencing studies (PMID: 31391288, PMID: 37273678), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 S508N missense unknown MLH1 S508N lies within the EXO1-interacting region and C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S508N has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 S685F missense unknown MLH1 S685F lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S685F has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 S698L missense unknown MLH1 S698L lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). S698L has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 T347I missense unknown MLH1 T347I does not lie within any known functional domains of the Mlh1 protein (Uniprot.org). T347I has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 T662P missense unknown MLH1 T662P lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). T662P results in decreased protein expression of Mlh1 (PMID: 23403630, PMID: 20533529) and Pms2 in culture (PMID: 20533529) and loss of mismatch repair (MMR) activity in yeast assays (PMID: 17510385) but demonstrates MMR activity comparable to wild-type in in vitro assays (PMID: 23403630, PMID: 17510385, PMID: 20533529), and therefore, its effect on Mlh1 protein function is unknown.
MLH1 T81I missense unknown MLH1 T81I lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). T81I has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 V16L missense unknown MLH1 V16L lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V16L has been identified in the scientific literature (PMID: 32206572, PMID: 34959239), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 V194I missense unknown MLH1 V194I lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V194I has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MLH1 V440M missense unknown MLH1 V440M lies within the EXO1-interacting region of the Mlh1 protein (UniProt.org). V440M has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2025).
MLH1 V4A missense unknown MLH1 V4A lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). V4A has not been characterized in the scientific literature and therefore, its effect on Mlh1 protein function is unknown (PubMed, Mar 2026).
MSH6 A1204E missense unknown MSH6 A1204E lies within the ATPase domain of the Msh6 protein (PMID: 17531815). A1204E has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A1204P missense unknown MSH6 A1204P lies within the ATPase domain of the Msh6 protein (PMID: 17531815). A1204P has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A1320Sfs*5 frameshift unknown MSH6 A1320Sfs*5 indicates a shift in the reading frame starting at amino acid 1320 and terminating 5 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). A1320Sfs*5 has been identified in the scientific literature (PMID: 35739269, PMID: 33393477, PMID: 18809606), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A175T missense unknown MSH6 A175T does not lie within any known functional domains of the Msh6 protein (UniProt.org). A175T has been identified in sequencing studies (PMID: 27302833), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A297T missense unknown MSH6 A297T does not lie within any known functional domains of the Msh6 protein (UniProt.org). A297T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A322V missense unknown MSH6 A322V does not lie within any known functional domains of the Msh6 protein (UniProt.org). A322V has been identified in sequencing studies (PMID: 26343386, PMID: 28153049), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2026).
MSH6 A339D missense unknown MSH6 A339D lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). A339D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A457D missense unknown MSH6 A457D lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). A457D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A457V missense unknown MSH6 A457V lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). A457V has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 A64V missense unknown MSH6 A64V does not lie within any known functional domains of the Msh6 protein (UniProt.org). A64V has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 C615F missense unknown MSH6 C615F lies within the connector domain of the Msh6 protein (PMID: 17531815). C615F has been identified in sequencing studies (PMID: 28002797, PMID: 28135145), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 C88W missense unknown MSH6 C88W does not lie within any known functional domains of the Msh6 protein (UniProt.org). C88W has been identified in sequencing studies (PMID: 22941188, PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D197H missense unknown MSH6 D197H does not lie within any known functional domains of the Msh6 protein (UniProt.org). D197H has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D358E missense unknown MSH6 D358E lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D358E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D358N missense unknown MSH6 D358N lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D358N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D390N missense unknown MSH6 D390N lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D390N has been identified in sequencing studies (PMID: 10786688, PMID: 34454112), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D422G missense unknown MSH6 D422G lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D422G has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D530Y missense unknown MSH6 D530Y lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). D530Y has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D667V missense unknown MSH6 D667V lies within the connector domain of the Msh6 protein (PMID: 17531815). D667V has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 D89E missense unknown MSH6 D89E does not lie within any known functional domains of the Msh6 protein (UniProt.org). D89E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 E1196* nonsense unknown MSH6 E1196* results in a premature truncation of the Msh6 protein at amino acid 1196 of 1360 (UniProt.org). E1196* has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 E1214* nonsense unknown MSH6 E1214* results in a premature truncation of the Msh6 protein at amino acid 1214 of 1360 (UniProt.org). E1214* has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 E1234* nonsense unknown MSH6 E1234* results in a premature truncation of the Msh6 protein at amino acid 1234 of 1360 (UniProt.org). E1234* has been identified in the scientific literature (PMID: 27149842, PMID: 35101943, PMID: 36765365), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 E1254del deletion unknown MSH6 E1254del results in the deletion of an amino acid in the ATPase domain of the Msh6 protein at amino acid 1254 (PMID: 17531815). E1254del has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Aug 2025).
MSH6 E1322* nonsense unknown MSH6 E1322* results in a premature truncation of the Msh6 protein at amino acid 1322 of 1360 (UniProt.org). E1322* has been identified in the scientific literature (PMID: 36765365, PMID: 31175329, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E286K missense unknown MSH6 E286K does not lie within any known functional domains of the Msh6 protein (UniProt.org). E286K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E484K missense unknown MSH6 E484K lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). E484K has been identified in sequencing studies (PMID: 28912153), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E544D missense unknown MSH6 E544D lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). E544D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E597Q missense unknown MSH6 E597Q lies within the connector domain of the Msh6 protein (PMID: 17531815). E597Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E946D missense unknown MSH6 E946D lies within the clamp domain of the Msh6 protein (PMID: 17531815). E946D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E956D missense unknown MSH6 E956D lies within the clamp domain of the Msh6 protein (PMID: 17531815). E956D has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 E993K missense unknown MSH6 E993K lies within the clamp domain of the Msh6 protein (PMID: 17531815). E993K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 F1088Lfs*5 frameshift unknown MSH6 F1088Lfs*5 indicates a shift in the reading frame starting at amino acid 1088 and terminating 5 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). F1088Lfs*5 has been identified in the scientific literature (PMID: 30877237, PMID: 30387329, PMID: 36091175), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 F1103L missense unknown MSH6 F1103L lies within the ATPase domain of the Msh6 protein (PMID: 17531815). F1103L has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 F689L missense unknown MSH6 F689L lies within the connector domain of the Msh6 protein (PMID: 17531815). F689L has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 F689V missense unknown MSH6 F689V lies within the connector domain of the Msh6 protein (PMID: 17531815). F689V has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G1072C missense unknown MSH6 G1072C lies within the lever domain of the Msh6 protein (PMID: 17531815). G1072C has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G1105Wfs*3 frameshift unknown MSH6 G1105Wfs*3 indicates a shift in the reading frame starting at amino acid 1105 and terminating 3 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). G1105Wfs*3 has been identified in the scientific literature (PMID: 28922847, PMID: 33840814, PMID: 31857677), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2026).
MSH6 G1139Afs*6 frameshift unknown MSH6 G1139Afs*6 indicates a shift in the reading frame starting at amino acid 1139 and terminating 6 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). G1139Afs*6 has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2026).
MSH6 G1299C missense unknown MSH6 G1299C lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1299C has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G1299D missense unknown MSH6 G1299D lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1299D has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G1316R missense unknown MSH6 G1316R lies within the ATPase domain of the Msh6 protein (PMID: 17531815). G1316R has been identified in sequencing studies (PMID: 24440087), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G141D missense unknown MSH6 G141D lies within the PWWP domain of the Msh6 protein (UniProt.org). G141D has been identified in sequencing studies (PMID: 30545397), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G39E missense unknown MSH6 G39E does not lie within any known functional domains of the Msh6 protein (UniProt.org). G39E is a common Msh6 polymorphism (PMID: 31552911, PMID: 24622885, PMID: 19582761), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G39W missense unknown MSH6 G39W does not lie within any known functional domains of the Msh6 protein (UniProt.org). G39W has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G529C missense unknown MSH6 G529C lies within the connector domain of the Msh6 protein (PMID: 17531815). G529C has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 G624S missense unknown MSH6 G624S lies within the connector domain of the Msh6 protein (PMID: 17531815). G624S has been identified in sequencing studies (PMID: 21097718, PMID: 32095738, PMID: 31762146), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2026).
MSH6 G93E missense unknown MSH6 G93E lies within the PWWP domain of the Msh6 protein (UniProt.org). G93E has been identified in sequencing studies (PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2026).
MSH6 I1183K missense unknown MSH6 I1183K lies within the ATPase domain of the Msh6 protein (PMID: 17531815). I1183K has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 I1183T missense unknown MSH6 I1183T lies within the ATPase domain of the Msh6 protein (PMID: 17531815). I1183T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 I1283fs frameshift unknown MSH6 I1283fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1283 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). I1283fs has been identified in the scientific literature (PMID: 34018286), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2026).
MSH6 I1357N missense unknown MSH6 I1357N lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). I1357N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 I258T missense unknown MSH6 I258T does not lie within any known functional domains of the Msh6 protein (UniProt.org). I258T has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 I425T missense unknown MSH6 I425T lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). I425T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 I944V missense unknown MSH6 I944V lies within the clamp domain of the Msh6 protein (PMID: 17531815). I944V has been identified in sequencing studies (PMID: 28944238), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2026).
MSH6 K1009I missense unknown MSH6 K1009I lies within the lever domain of the Msh6 protein (PMID: 17531815). K1009I has been identified in sequencing studies (PMID: 35128723), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K1013N missense unknown MSH6 K1013N lies within the lever domain of the Msh2 protein (PMID: 17531815). K1013N has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K1014del deletion unknown MSH6 K1014del results in the deletion of an amino acid in the lever domain of the Msh6 protein at amino acid 1014 (PMID: 17531815). K1014del has been identified in the scientific literature (PMID: 29875428, PMID: 36260514), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K1101N missense unknown MSH6 K1101N lies within the ATPase domain of the Msh6 protein (PMID: 17531815). K1101N is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 K1358Dfs*2 frameshift unknown MSH6 K1358Dfs*2 indicates a shift in the reading frame starting at amino acid 1358 and terminating 2 residues downstream causing a premature truncation of the 1360 amino acid Msh6 protein (UniProt.org). K1358Dfs*2 has been identified in sequencing studies (PMID: 33804295, PMID: 38509102), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2026).
MSH6 K1358fs frameshift unknown MSH6 K1358fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1358 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). K1358fs has been identified in the scientific literature (PMID: 26436112, PMID: 34620004, PMID: 35958441), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, May 2026).
MSH6 K155R missense unknown MSH6 K155R does not lie within any known functional domains of the Msh6 protein (UniProt.org). K155R has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 K185T missense unknown MSH6 K185T does not lie within any known functional domains of the Msh6 protein (UniProt.org). K185T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K417E missense unknown MSH6 K417E lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). K417E has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K428T missense unknown MSH6 K428T lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). K428T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K431T missense unknown MSH6 K431T lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). K431T has been identified in sequencing studies (PMID: 25233892), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K646R missense unknown MSH6 K646R lies within the connector domain of the Msh6 protein (PMID: 17531815). K646R has been identified in sequencing studies (PMID: 37007083, PMID: 32980694), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K692N missense unknown MSH6 K692N lies within the connector domain of the Msh6 protein (PMID: 17531815). K692N has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K885N missense unknown MSH6 K885N lies within the lever domain of the Msh6 protein (PMID: 17531815). K885N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 K99N missense unknown MSH6 K99N lies within the PWWP domain of the Msh6 protein (UniProt.org). K99N is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 L373P missense unknown MSH6 L373P lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). L373P has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 L423I missense unknown MSH6 L423I lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). L423I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 L681F missense unknown MSH6 L681F lies within the connector domain of the Msh6 protein (PMID: 17531815). L681F has been identified in sequencing studies (PMID: 22980975, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 L893Q missense unknown MSH6 L893Q lies within the lever domain of the Msh6 protein (PMID: 17531815). L893Q has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 L979V missense unknown MSH6 L979V lies within the clamp domain of the Msh6 protein (PMID: 17531815). L979V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 M1156K missense unknown MSH6 M1156K lies within the ATPase domain of the Msh6 protein (PMID: 17531815). M1156K has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 M452V missense unknown MSH6 M452V lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). M452V has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 M868I missense unknown MSH6 M868I lies within the lever domain of the Msh6 protein (PMID: 17531815). M868I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 M868T missense unknown MSH6 M868T lies within the lever domain of the Msh6 protein (PMID: 17531815). M868T has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 N897H missense unknown MSH6 N897H lies within the lever domain of the Msh6 protein (PMID: 17531815). N897H has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 N960T missense unknown MSH6 N960T lies within the clamp domain of the Msh6 protein (PMID: 17531815). N960T has been identified in the scientific literature (PMID: 25224212), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 P1077S missense unknown MSH6 P1077S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1077S has been identified in sequencing studies (PMID: 29245953), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 P1082L missense unknown MSH6 P1082L lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1082L has been identified in sequencing studies (PMID: 25503501, PMID: 30603682, PMID: 29368341), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 P1082S missense unknown MSH6 P1082S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1082S has been identified in the scientific literature (PMID: 24100870), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 P1097S missense unknown MSH6 P1097S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). P1097S has been identified in sequencing studies (PMID: 28002797, PMID: 35522273), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 P233S missense unknown MSH6 P233S does not lie within any known functional domains of the Msh6 protein (UniProt.org). P233S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 P591Q missense unknown MSH6 P591Q lies within the connector domain of the Msh6 protein (PMID: 17531815). P591Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 P768H missense unknown MSH6 P768H lies within the lever domain of the Msh6 protein (PMID: 17531815). P768H has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 P781T missense unknown MSH6 P781T lies within the lever domain of the Msh6 protein (PMID: 17531815). P781T has been identified in sequencing studies (PMID: 33253688), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 P982A missense unknown MSH6 P982A lies within the clamp domain of the Msh6 protein (PMID: 17531815). P982A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 Q698E missense unknown MSH6 Q698E lies within the connector domain of the Msh6 protein (PMID: 17531815). Q698E has been identified in the scientific literature (PMID: 22290698, PMID: 32635641), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 Q776H missense unknown MSH6 Q776H lies within the lever domain of the Msh6 protein (PMID: 17531815). Q776H has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R1024W missense unknown MSH6 R1024W lies within the lever domain of the Msh6 protein (PMID: 17531815). R1024W is predicted to have a pathogenic effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 R1034Q missense unknown MSH6 R1034Q lies within the lever domain of the Msh6 protein (PMID: 17531815). R1034Q has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R1076C missense unknown MSH6 R1076C lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1076C has been identified in the scientific literature (PMID: 33422121, PMID: 22250089, PMID: 26832770), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Feb 2026).
MSH6 R1076H missense unknown MSH6 R1076H lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1076H has been identified in sequencing studies (PMID: 29263802, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R128H missense unknown MSH6 R128H lies within the PWWP domain of the Msh6 protein (UniProt.org). R128H has been identified in sequencing studies (PMID: 27547838), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 R1331* nonsense unknown MSH6 R1331* results in a premature truncation of the Msh6 protein at amino acid 1331 of 1360 (UniProt.org). R1331* has been identified in the scientific literature (PMID: 16418736, PMID: 26552419, PMID: 32354708), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R1331P missense unknown MSH6 R1331P lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1331P results in subcellular localization similar to wild-type Msh6 in culture (PMID: 22851212), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R1331Q missense unknown MSH6 R1331Q lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1331Q has been identified in sequencing studies (PMID: 31857677), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 R1334W missense unknown MSH6 R1334W lies within the ATPase domain of the Msh6 protein (PMID: 17531815). R1334W has been identified in sequencing studies (PMID: 25275298, PMID: 31391288), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R178H missense unknown MSH6 R178H does not lie within any known functional domains of the Msh6 protein (UniProt.org). R178H has been identified in sequencing studies (PMID: 31857677), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R361H missense unknown MSH6 R361H lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). R361H has been identified in the scientific literature (PMID: 26674132, PMID: 25344691, PMID: 31555481), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R383G missense unknown MSH6 R383G lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). R383G has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R482Q missense unknown MSH6 R482Q lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). R482Q has been identified in sequencing studies (PMID: 37216304), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R577H missense unknown MSH6 R577H lies within the connector domain of the Msh6 protein (PMID: 17531815). R577H is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 R644S missense unknown MSH6 R644S lies within the connector domain of the Msh6 protein (PMID: 17531815). R644S is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 R761M missense unknown MSH6 R761M lies within the lever domain of the Msh6 protein (PMID: 17531815). R761M has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 R791C missense unknown MSH6 R791C lies within the lever domain of the Msh6 protein (PMID: 17531815). R791C has been identified in sequencing studies (PMID: 25855536, PMID: 31391288), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 R791H missense unknown MSH6 R791H lies within the lever domain of the Msh6 protein (PMID: 17531815). R791H has been identified in sequencing studies (PMID: 25233892, PMID: 31031019), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 R959H missense unknown MSH6 R959H lies within the clamp domain of the Msh6 protein (PMID: 17531815). R959H has been identified in sequencing studies (PMID: 26648449, PMID: 29596542), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 R961I missense unknown MSH6 R961I lies within the clamp domain of the Msh6 protein (PMID: 17531815). R961I has been identified in sequencing studies (PMID: 22895193, PMID: 31391288), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 S1028L missense unknown MSH6 S1028L lies within the lever domain of the Msh6 protein (PMID: 17531815). S1028L has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 S1049F missense unknown MSH6 S1049F lies within the lever domain of the Msh6 protein (PMID: 17531815). S1049F is predicted to have a moderate effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 S1067I missense unknown MSH6 S1067I lies within the lever domain of the Msh6 protein (PMID: 17531815). S1067I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 S1208F missense unknown MSH6 S1208F lies within the ATPase domain of the Msh6 protein (PMID: 17531815). S1208F has been identified in sequencing studies (PMID: 24628946), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 S1279N missense unknown MSH6 S1279N lies within the ATPase domain of the Msh6 protein (PMID: 17531815). S1279N has been identified in sequencing studies (PMID: 30171174), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 S314I missense unknown MSH6 S314I does not lie within any known functional domains of the Msh6 protein (UniProt.org). S314I is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 S360I missense unknown MSH6 S360I lies within an MSH2-binding region of the Msh6 protein (PMID: 12019211). S360I is predicted to have no effect on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Oct 2025).
MSH6 S41C missense unknown MSH6 S41C does not lie within any known functional domains of the Msh6 protein (UniProt.org). S41C has been identified in sequencing studies (PMID: 35449176), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2026).
MSH6 S631F missense unknown MSH6 S631F lies within the connector domain of the Msh6 protein (PMID: 17531815). S631F has been identified in sequencing studies (PMID: 29245953, PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2026).
MSH6 S668C missense unknown MSH6 S668C lies within the connector domain of the Msh6 protein (PMID: 17531815). S668C has been identified in sequencing studies (PMID: 38127276), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 S677I missense unknown MSH6 S677I lies within the connector domain of the Msh6 protein (PMID: 17531815). S677I has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 S950I missense unknown MSH6 S950I lies within the clamp domain of the Msh6 protein (PMID: 17531815). S950I has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T1010A missense unknown MSH6 T1010A lies within the lever domain of the Msh6 protein (PMID: 17531815). T1010A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T1189I missense unknown MSH6 T1189I lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1189I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T1205I missense unknown MSH6 T1205I lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1205I has been identified in sequencing studies (PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T1238A missense unknown MSH6 T1238A lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1238A has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T1247S missense unknown MSH6 T1247S lies within the ATPase domain of the Msh6 protein (PMID: 17531815). T1247S has been identified in sequencing studies (PMID: 35449176), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T269S missense unknown MSH6 T269S does not lie within any known functional domains of the Msh6 protein (UniProt.org). T269S is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T750P missense unknown MSH6 T750P lies within the lever domain of the Msh6 protein (PMID: 17531815). T750P has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 T757I missense unknown MSH6 T757I lies within the lever domain of the Msh6 protein (PMID: 17531815). T757I has been identified in sequencing studies (PMID: 25078279, PMID: 22622578, PMID: 31471491), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 V1056M missense unknown MSH6 V1056M lies within the lever domain of the Msh6 protein (PMID: 17531815). V1056M is predicted to have no impact on Msh6 protein function by computational analysis (PMID: 23621914), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown.
MSH6 V1350A missense unknown MSH6 V1350A lies within the ATPase domain of the Msh6 protein (PMID: 17531815). V1350A has been identified in sequencing studies (PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 V450A missense unknown MSH6 V450A lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V450A has not been characterized in the scientific literature and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 V480L missense unknown MSH6 V480L lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V480L has been identified in the scientific literature (PMID: 12732731), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Sep 2025).
MSH6 V509A missense no effect - predicted MSH6 V509A lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). V509A was not identified to interfere with Msh6 mismatch repair activity in a functional screen in mouse cells (PMID: 28531214), and did not demonstrate mismatch repair deficiency in an in vitro assay (PMID: 31965077), and therefore, is predicted to have no effect on Msh6 protein function.
MSH6 V878A missense unknown MSH6 V878A lies within the MutS domain 3 of the Msh6 protein (PMID: 23621914). The functional effect of V878A is conflicting, as it demonstrates decreased Msh6 ATPase activity in vitro in one study (PMID: 18790734), but demonstrates proficient mismatch repair activity in an in vitro assay in another study (PMID: 22102614), and therefore, its effect on Msh6 protein function is unknown.
MSH6 W912R missense unknown MSH6 W912R lies within the lever domain of the Msh6 protein (PMID: 17531815). W912R has not been characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 Y1256* nonsense unknown MSH6 Y1256* results in a premature truncation of the Msh6 protein at amino acid 1256 of 1360 (UniProt.org). Y1256* has been identified in the scientific literature (PMID: 35739269, PMID: 33393477, PMID: 26552419), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Nov 2025).
MSH6 Y397H missense unknown MSH6 Y397H lies within the mismatch binding domain of the Msh6 protein (PMID: 17531815). Y397H has been identified in sequencing studies (PMID: 39659251), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Mar 2026).
NRAS A11T missense unknown NRAS A11T lies within a GTP-binding region of the Nras protein (UniProt.org). A11T has been identified in the scientific literature (PMID: 2183888), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Nov 2025).
NRAS A66V missense unknown NRAS A66V lies within the switch II domain of the Nras protein (PMID: 17384584). A66V has been identified in sequencing studies (PMID: 25127237, PMID: 30458888, PMID: 36902296), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Nov 2025).
NRAS D154G missense unknown NRAS D154G lies within the G domain of the Nras protein (PMID: 17384584). D154G has been identified in sequencing studies (PMID: 24816253, PMID: 22037554), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Nov 2025).
NRAS D154H missense unknown NRAS D154H lies within the G domain of the Nras protein (PMID: 17384584). D154H has been identified in sequencing studies (PMID: 27693639), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Nov 2025).
NRAS D175N missense unknown NRAS D175N lies within the hypervariable region of the Nras protein (PMID: 17384584). D175N has not been characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS D54N missense unknown NRAS D54N does not lie within any known functional domains of the Nras protein (UniProt.org). D54N has been identified in the scientific literature (PMID: 32028967), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS D92N missense unknown NRAS D92N does not lie within any known functional domains of the Nras protein (UniProt.org). D92N has been identified in sequencing studies (PMID: 29734047), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Oct 2025).
NRAS G12Y missense unknown NRAS G12Y is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12Y results in increased phosphorylation of Stat5 but Erk phosphorylation similar to wild-type Nras, and is not transforming in culture (PMID: 35211470), and therefore, its effect on Nras protein function is unknown.
NRAS G13F missense unknown NRAS G13F lies within a GTP-binding region of the Nras protein (UniProt.org). G13F has been identified in sequencing studies (PMID: 26189770), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS G13V missense loss of function - predicted NRAS G13V is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G13V has not been characterized, but can be predicted to confer a loss of function to the Nras protein based on the effects of HRAS G13V, which results in a loss of response to GTPase-activating proteins, leading to increased GTP-bound Hras in culture (PMID: 24224811).
NRAS G60V missense unknown NRAS G60V lies within a GTP binding region of the Nras protein (UniProt.org). G60V has been identified in the scientific literature (PMID: 35494035, PMID: 30177804, PMID: 33588147), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS H131R missense unknown NRAS H131R lies within the G domain of the Nras protein (PMID: 17384584). H131R has been identified in sequencing studies (PMID: 24755198, PMID: 22817889), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS I24L missense unknown NRAS I24L lies within the G domain of the Nras protein (PMID: 17384584). I24L has been identified in sequencing studies (PMID: 22495314), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS L95H missense unknown NRAS L95H does not lie within any known functional domains of the Nras protein (UniProt.org). L95H has been identified in the scientific literature (PMID: 37258666), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS P34A missense unknown NRAS P34A lies within the switch I domain of the Nras protein (PMID: 17384584). P34A has not been characterized in the scientific literature and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS Q129E missense unknown NRAS Q129E lies within the G domain of the Nras protein (PMID: 17384584). Q129E has been identified in the scientific literature (PMID: 31101826), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS Q150H missense unknown NRAS Q150H lies within the G domain of the Nras protein (PMID: 17384584). Q150H has been identified in sequencing studies (PMID: 28108514, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS Q22K missense unknown NRAS Q22K lies within the G domain of the Nras protein (PMID: 17384584). Q22K has been identified in the scientific literature (PMID: 31795494, PMID: 27168466, PMID: 22817889), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS R167L missense unknown NRAS R167L lies within the hypervariable region of the Nras protein (UniProt.org). R167L has been identified in the scientific literature (PMID: 26343583), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS R68T missense unknown NRAS R68T does not lie within any known functional domains of the Nras protein (UniProt.org). R68T has been identified in sequencing studies (PMID: 37031462, PMID: 33832948), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Apr 2026).
NRAS S106L missense unknown NRAS S106L lies within the G domain of the Nras protein (PMID: 17384584). S106L has been identified in sequencing studies (PMID: 33599171), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Oct 2025).
NRAS S65G missense unknown NRAS S65G lies within the switch II domain of the Nras protein (PMID: 17384584). S65G has been identified in sequencing studies (PMID: 35330454), but has not been biochemically characterized and therefore, its effect on Nras protein function is unknown (PubMed, Oct 2025).
NRAS T58_A59insTDV insertion unknown NRAS T58_A59insTDV results in the insertion of three amino acids within a GTP binding region of the Nras protein between amino acids 58 and 59 (UniProt.org). T58_A59insTDV has not been characterized in the scientific literature and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS T74S missense unknown NRAS T74S lies within the G domain of the Nras protein (PMID: 17384584). T74S has not been characterized in the scientific literature and therefore, its effect on Nras protein function is unknown (PubMed, Mar 2026).
NRAS Y40* nonsense loss of function - predicted NRAS Y40* results in a premature truncation of the Nras protein at amino acid 40 of 189 (UniProt.org). Due to the loss of GTP binding regions (UniProt.org), Y40* is predicted to lead to a loss of Nras protein function resulting in inactivation of downstream signaling.
PALB2 A1173S missense unknown PALB2 A1173S lies within WD repeat 7 of the Palb2 protein (UniProt.org). A1173S has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 A291V missense unknown PALB2 A291V lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). A291V has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Mar 2026).
PALB2 A308T missense unknown PALB2 A308T lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). A308T has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Mar 2026).
PALB2 A38G missense unknown PALB2 A38G lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). A38G demonstrates homology-directed DNA repair activity in cultured cells (PMID: 33811135), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 A915T missense unknown PALB2 A915T lies within WD repeat 1 of the Palb2 protein (UniProt.org). A915T has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, Mar 2026).
PALB2 A968G missense unknown PALB2 A968G lies within WD repeat 3 of the Palb2 protein (UniProt.org). A968G has been identified in sequencing studies (PMID: 32659497, PMID: 34359559), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D1122N missense unknown PALB2 D1122N lies within WD repeat 6 of the Palb2 protein (UniProt.org). D1122N has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D1156H missense unknown PALB2 D1156H lies within WD repeat 7 of the Palb2 protein (UniProt.org). D1156H has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D219G missense unknown PALB2 D219G lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). D219G has been identified in sequencing studies (PMID: 23935836, PMID: 20122277, PMID: 26283626), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D584E missense unknown PALB2 D584E does not lie within any known functional domains of the Palb2 protein (UniProt.org). D584E has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D595A missense unknown PALB2 D595A does not lie within any known functional domains of the Palb2 protein (UniProt.org). D595A has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D777N missense unknown PALB2 D777N lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). D777N has been identified in sequencing studies (PMID: 31822803, PMID: 30309218, PMID: 24293293), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D803N missense unknown PALB2 D803N lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). D803N has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D893E missense unknown PALB2 D893E lies within WD repeat 1 of the Palb2 protein (UniProt.org). D893E has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 D986Y missense unknown PALB2 D986Y lies within WD repeat 3 of the Palb2 protein (UniProt.org). D986Y has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E1010* nonsense loss of function - predicted PALB2 E1010* results in a premature truncation of the Palb2 protein at amino acid 1010 of 1186 (UniProt.org). E1010* has not been characterized however, due to the effects of other truncation mutations downstream of E1010 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 E19D missense unknown PALB2 E19D lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E19D has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E347K missense unknown PALB2 E347K lies within the DNA-binding region of the Palb2 protein (UniProt.org). E347K has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E352Q missense unknown PALB2 E352Q lies within the DNA-binding region of the Palb2 protein (UniProt.org). E352Q has been identified in the scientific literature (PMID: 23977390, PMID: 30171174, PMID: 35087742), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E373G missense unknown PALB2 E373G lies within the DNA-binding region of the Palb2 protein (UniProt.org). E373G has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E53K missense unknown PALB2 E53K lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E53K has been identified in sequencing studies (PMID: 33193564), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E645K missense unknown PALB2 E645K does not lie within any known functional domains of the Palb2 protein (UniProt.org). E645K has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Mar 2026).
PALB2 E837K missense unknown PALB2 E837K lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). E837K has been identified in sequencing studies (PMID: 30702443, PMID: 24755471, PMID: 29190888), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E892K missense unknown PALB2 E892K lies within WD repeat 1 of the Palb2 protein (UniProt.org). E892K has been identified in sequencing studies (PMID: 25356972, PMID: 25575445), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 E94K missense no effect - predicted PALB2 E94K lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E94K results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 G115V missense no effect - predicted PALB2 G115V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). G115V results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 G439V missense unknown PALB2 G439V lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). G439V has been identified in sequencing studies (PMID: 26580448, PMID: 32832836), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 G964V missense unknown PALB2 G964V lies within WD repeat 3 of the Palb2 protein (UniProt.org). G964V has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 G971R missense unknown PALB2 G971R lies within WD repeat 3 of the Palb2 protein (UniProt.org). G971R has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 H1076D missense unknown PALB2 H1076D lies within WD repeat 5 of the Palb2 protein (UniProt.org). H1076D has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 I76V missense no effect - predicted PALB2 I76V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). I76V results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 I887V missense unknown PALB2 I887V lies within WD repeat 1 of the Palb2 protein (UniProt.org). I887V has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 K695E missense unknown PALB2 K695E does not lie within any known functional domains of the Palb2 protein (UniProt.org). K695E has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 K81R missense no effect - predicted PALB2 K81R lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K81R results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 L100F missense unknown PALB2 L100F lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L100F retains the ability to rescue homologous recombination in Palb2-deficient cells (PMID: 41554690), and therefore, is predicted to have no effect on Palb2 protein function
PALB2 L262P missense unknown PALB2 L262P lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). L262P has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 L273R missense unknown PALB2 L273R lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). L273R has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 L32V missense no effect - predicted PALB2 L32V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L32V results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 L607V missense unknown PALB2 L607V does not lie within any known functional domains of the Palb2 protein (UniProt.org). L607V has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 L9V missense unknown PALB2 L9V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L9V demonstrates homology-directed DNA repair activity in cultured cells (PMID: 33811135), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 M1032I missense unknown PALB2 M1032I lies within WD repeat 4 of the Palb2 protein (UniProt.org). M1032I has been identified in sequencing studies (PMID: 38153744), but has not been biochemically characterized, and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 M1067T missense unknown PALB2 M1067T lies within WD repeat 5 of the Palb2 protein (UniProt.org). M1067T has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 N349K missense unknown PALB2 N349K lies within the DNA-binding region of the Palb2 protein (UniProt.org). N349K has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P1008L missense unknown PALB2 P1008L lies within WD repeat 3 of the Palb2 protein (UniProt.org). P1008L has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P1008T missense unknown PALB2 P1008T lies within WD repeat 3 of the Palb2 protein (UniProt.org). P1008T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P187L missense unknown PALB2 P187L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P187L has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P191S missense unknown PALB2 P191S lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P191S has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P207R missense no effect - predicted PALB2 P207R lies within the DNA-binding, and BRCA1-interacting regions of the Palb2 protein (UniProt.org). P207R results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 P249H missense unknown PALB2 P249H lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). P249H has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P65L missense no effect - predicted PALB2 P65L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P65L demonstrates BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 P729H missense unknown PALB2 P729H does not lie within any known functional domains of the Palb2 protein (UniProt.org). P729H has been identified in sequencing studies (PMID: 35954363), but has not been biochemically characterized, and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P758L missense unknown PALB2 P758L does not lie within any known functional domains of the Palb2 protein (UniProt.org). P758L has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 P812L missense unknown PALB2 P812L lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). P812L has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 Q348K missense loss of function - predicted PALB2 Q348K lies within the DNA-binding region of the Palb2 protein (UniProt.org). Q348K results in expression, nuclear localization, and interaction with Brca1 similar to wild-type Palb2, but leads to a partial reduction in homologous recombination activity in cell culture (PMID: 35762214), and therefore, is predicted to lead to a loss of Palb2 protein function.
PALB2 R566H missense unknown PALB2 R566H lies within the DNA-binding region of the Palb2 protein (UniProt.org). R566H has been identified in sequencing studies (PMID: 22895193, PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 R594K missense unknown PALB2 R594K does not lie within any known functional domains of the Palb2 protein (UniProt.org). R594K has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 R753Q missense unknown PALB2 R753Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). R753Q has been identified in the scientific literature (PMID: 24728327, PMID: 26343386, PMID: 34635506), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 S835P missense unknown PALB2 S835P lies within a region of the Palb2 protein required for POLH interaction and POLH DNA synthesis stimulation (UniProt.org). S835P has not been characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 S951F missense unknown PALB2 S951F lies within WD repeat 2 of the Palb2 protein (UniProt.org). S951F does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), but has not been fully biochemically characterized and therefore, its effect on protein function is unknown.
PALB2 T124I missense no effect - predicted PALB2 T124I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). T124I results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 T226S missense unknown PALB2 T226S lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). T226S has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Mar 2026).
PALB2 T317P missense no effect - predicted PALB2 T317P lies within the DNA-binding, and BRCA1-interacting regions of the Palb2 protein (UniProt.org). T317P results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 T333A missense unknown PALB2 T333A lies within the DNA-binding region of the Palb2 protein (UniProt.org). T333A has been identified in sequencing studies (PMID: 31328403), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 T733A missense unknown PALB2 T733A does not lie within any known functional domains of the Palb2 protein (UniProt.org). T733A has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 V1154L missense unknown PALB2 V1154L lies within the WD repeat 7 of the Palb2 protein (UniProt.org). V1154L has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, Mar 2026).
PALB2 V487D missense unknown PALB2 V487D lies within the DNA-binding region of the Palb2 protein (UniProt.org). V487D has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 V858L missense unknown PALB2 V858L lies within WD repeat 1 of the Palb2 protein (UniProt.org). V858L has been identified in sequencing studies (PMID: 29285234), but has not been biochemically characterized and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 V917D missense unknown PALB2 V917D lies within WD repeat 2 of the Palb2 protein (UniProt.org). V917D has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 V932A missense unknown PALB2 V932A lies within WD repeat 2 of the Palb2 protein (UniProt.org). V932A has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PALB2 Y1185S missense unknown PALB2 Y1185S lies within WD repeat 7 of the Palb2 protein (UniProt.org). Y1185S has not been characterized in the scientific literature and therefore, its effect on Palb2 protein function is unknown (PubMed, May 2026).
PIK3CA A1035T missense unknown PIK3CA A1035T lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1035T has been identified in the scientific literature (PMID: 33710807, PMID: 26796526), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA A1035V missense unknown PIK3CA A1035V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1035V has been identified in the scientific literature (PMID: 30167082, PMID: 40507285, PMID: 34269527), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA A1046_H1047insTSA insertion unknown PIK3CA A1046_H1047insTSA results in the insertion of three amino acids in the PI3K/PI4K domain of the Pik3ca protein between amino acids 1046 and 1047 (UniProt.org). A1046_H1047insTSA has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA A1046E missense unknown PIK3CA A1046E lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1046E has been identified in the scientific literature (PMID: 18022911, PMID: 22357840, PMID: 22753589), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA A1046T missense unknown PIK3CA A1046T lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1046T has been identified in the scientific literature (PMID: 25150293, PMID: 22357840, PMID: 30546467), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA A1046V missense unknown PIK3CA A1046V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). A1046V has been identified in the scientific literature (PMID: 23107319, PMID: 26796526), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA A1066V missense unknown PIK3CA A1066V does not lie within any known functional domains of the Pik3ca protein (UniProt.org). A1066V results in Akt phosphorylation levels similar to wild-type Pik3ca, but results in increased anchorage-independent colony formation and cell motility in conditions without growth factor in cell culture (PMID: 22430209), and therefore, its effect on Pik3ca protein function is unknown.
PIK3CA C378F missense unknown PIK3CA C378F lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C378F has been identified in the scientific literature (PMID: 34842356), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA C407F missense unknown PIK3CA C407F lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C407F has been identified in sequencing studies (PMID: 30337457, PMID: 29386312, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2025).
PIK3CA C407W missense unknown PIK3CA C407W lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C407W has been identified in sequencing studies (PMID: 26919320, PMID: 20826764, PMID: 25850943), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA C407Y missense unknown PIK3CA C407Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C407Y has been identified in sequencing studies (PMID: 27302833, PMID: 21984976), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA C901Y missense unknown PIK3CA C901Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). C901Y has been identified in sequencing studies (PMID: 30268455, PMID: 28539465, PMID: 31455347), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA C90G missense unknown PIK3CA C90G lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). C90G has been identified in sequencing studies (PMID: 31202631, PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA C90R missense unknown PIK3CA C90R lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). C90R has been identified in sequencing studies (PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA C90S missense unknown PIK3CA C90S lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). C90S has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA D1029H missense unknown PIK3CA D1029H lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1029H has been identified in the scientific literature (PMID: 26643573, PMID: 22949056, PMID: 23718828), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D1045N missense unknown PIK3CA D1045N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1045N has been identified in the scientific literature (PMID: 25624430, PMID: 26850916, PMID: 36698189), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D1045V missense unknown PIK3CA D1045V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D1045V has been identified in sequencing studies (PMID: 28936923, PMID: 22960745), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA D1056G missense unknown PIK3CA D1056G does not lie within any known functional domains of the Pik3ca protein (UniProt.org). D1056G has been identified in the scientific literature (PMID: 17317825), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA D300Y missense unknown PIK3CA D300Y does not lie within any known functional domains of the Pik3ca protein (UniProt.org). D300Y has been identified in sequencing studies (PMID: 21984976), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA D350H missense unknown PIK3CA D350H lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D350H has been identified in the scientific literature (PMID: 37318638, PMID: 28912153, PMID: 33203919), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA D350V missense unknown PIK3CA D350V lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D350V has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA D454Y missense unknown PIK3CA D454Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D454Y has been identified in sequencing studies (PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D520V missense unknown PIK3CA D520V lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D520V has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D549H missense unknown PIK3CA D549H lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549H has been identified in the scientific literature (PMID: 29106415, PMID: 30619505, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D549Y missense unknown PIK3CA D549Y lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549Y has been identified in the scientific literature (PMID: 29106415, PMID: 26270481), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D746V missense unknown PIK3CA D746V does not lie within any known functional domains of the Pik3ca protein (UniProt.org). D746V has been identified in sequencing studies (PMID: 22653804, PMID: 23765252), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA D926N missense unknown PIK3CA D926N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). D926N has been identified in sequencing studies (PMID: 30766968, PMID: 26099045, PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA E110_K111dup duplication unknown PIK3CA E110_K111dup indicates the insertion of two duplicate amino acids, glutamic acid (E)-110 through lysine (K)-111, in the Pik3ca protein (UniProt.org). E110_K111dup has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E110K missense unknown PIK3CA E110K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E110K has been identified in the scientific literature (PMID: 23619167, PMID: 29535826, PMID: 24559118), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E172Q missense unknown PIK3CA E172Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E172Q has been identified in sequencing studies (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E218Tfs*7 frameshift unknown PIK3CA E218Tfs*7 indicates a shift in the reading frame starting at amino acid 218 and terminating 7 residues downstream causing a premature truncation of the 1068 amino acid Pik3ca protein (UniProt.org). E218Tfs*7 has been identified in sequencing studies (PMID: 34476097), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E321D missense unknown PIK3CA E321D does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E321D has been identified in the scientific literature (PMID: 32098826), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E39G missense unknown PIK3CA E39G lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E39G has been identified in sequencing studies (PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E453_D454del deletion unknown PIK3CA E453_D454del results in the deletion of two amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 453 to 454 (UniProt.org). E453_D454del has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E453_L455delinsV indel unknown PIK3CA E453_L455delinsV results in the deletion of three amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 453 to 455, combined with the insertion of a valine (V) at the same site (UniProt.org). E453_L455delinsV has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E453_P466del deletion unknown PIK3CA E453_P466del results in the deletion of 14 amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 453 to 466 (UniProt.org). E453_P466del has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E453_T462del deletion unknown PIK3CA E453_T462del results in the deletion of ten amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 453 to 462 (UniProt.org). E453_T462del has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA E453D missense unknown PIK3CA E453D lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453D has been identified in sequencing studies (PMID: 38881162, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2025).
PIK3CA E453del deletion unknown PIK3CA E453del results in the deletion of an amino acid in the C2 PI3K-type domain of the Pik3ca protein at amino acid 453 (UniProt.org). E453del has been identified in sequencing studies (PMID: 35145232, PMID: 31349857, PMID: 40508054), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E453G missense unknown PIK3CA E453G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453G has been identified in the scientific literature (PMID: 35768433), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E453V missense unknown PIK3CA E453V lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453V has been identified in sequencing studies (PMID: 27135926), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E474D missense unknown PIK3CA E474D lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E474D has been identified in the scientific literature (PMID: 36387265), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E522A missense unknown PIK3CA E522A lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E522A has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E542D missense unknown PIK3CA E542D lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542D has been identified in sequencing studies (PMID: 29066915), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E542R missense unknown PIK3CA E542R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542R has been identified in sequencing studies (PMID: 23575477, PMID: 33314633), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E545L missense unknown PIK3CA E545L is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545L has been identified in sequencing studies (PMID: 29854313), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E545R missense unknown PIK3CA E545R is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545R has been identified in sequencing studies (PMID: 30547809, PMID: 33314633), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E545V missense unknown PIK3CA E545V is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545V has been identified in sequencing studies (PMID: 29482551, PMID: 24504419), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E563K missense unknown PIK3CA E563K lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E563K has been identified in the scientific literature (PMID: 32923889), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E600K missense unknown PIK3CA E600K lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E600K has been identified in the scientific literature (PMID: 35709927, PMID: 35977725, PMID: 38024667), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E674Q missense unknown PIK3CA E674Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E674Q has been identified in the scientific literature (PMID: 25349966, PMID: 28760909), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E722K missense unknown PIK3CA E722K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E722K has been identified in the scientific literature (PMID: 31852484, PMID: 35768433), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E726A missense unknown PIK3CA E726A does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E726A has been identified in sequencing studies (PMID: 24705251, PMID: 32650224), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA E726G missense unknown PIK3CA E726G does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E726G has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2025).
PIK3CA E726Q missense unknown PIK3CA E726Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E726Q has been identified in sequencing studies (PMID: 37490393), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E737Q missense unknown PIK3CA E737Q lies within the G-loop region of the Pik3ca protein (UniProt.org). E737Q has been identified in sequencing studies (PMID: 37916958, PMID: 37076495), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2026).
PIK3CA E78K missense unknown PIK3CA E78K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E78K has been identified in the scientific literature (PMID: 27126994), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA E80K missense unknown PIK3CA E80K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). E80K has been identified in the scientific literature (PMID: 29636477, PMID: 22722201, PMID: 31174159), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA E978K missense unknown PIK3CA E978K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). E978K has been identified in the scientific literature (PMID: 28119489), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA F1039L missense unknown PIK3CA F1039L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F1039L has been identified in sequencing studies (PMID: 30089603, PMID: 22949056, PMID: 19487299), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA F550S missense unknown PIK3CA F550S lies within the PIK helical domain of the Pik3ca protein (UniProt.org). F550S has been identified in sequencing studies (PMID: 30268455, PMID: 19487299, PMID: 17317825), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA F744L missense unknown PIK3CA F744L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). F744L has been identified in the scientific literature (PMID: 30683736), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA F909L missense unknown PIK3CA F909L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F909L has been identified in sequencing studies (PMID: 24440717, PMID: 15805248), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA F977Y missense unknown PIK3CA F977Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). F977Y has been associated with resistance to a PI3K inhibitor in culture (PMID: 30108165), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026). Y
PIK3CA G1007D missense unknown PIK3CA G1007D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1007D has been identified in the scientific literature (PMID: 16288007), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA G1009R missense unknown PIK3CA G1009R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1009R has been identified in sequencing studies (PMID: 34150029, PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA G1049A missense unknown PIK3CA G1049A lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049A has been identified in the scientific literature (PMID: 34249978, PMID: 35355608), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G1049C missense unknown PIK3CA G1049C lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049C has been identified in sequencing studies (PMID: 29854313, PMID: 23266353), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G1049D missense unknown PIK3CA G1049D lies within the PI3K/PI4K protein kinase domain of the Pik3ca protein (UniProt.org). G1049D has been identified in the scientific literature (PMID: 28731042, PMID: 26452060, PMID: 24062397), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G1049S missense unknown PIK3CA G1049S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049S has been identified in the scientific literature (PMID: 25656989, PMID: 27177864, PMID: 35256403), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G106_N107del deletion unknown PIK3CA G106_N107del results in the deletion of two amino acids of the Pik3ca protein from amino acids 106 to 107 (UniProt.org). G106_N107del has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G106C missense unknown PIK3CA G106C does not lie within any known functional domains of the Pik3ca protein (UniProt.org). G106C has been identified in sequencing studies (PMID: 31312661, PMID: 39134585), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA G106D missense unknown PIK3CA G106D does not lie within any known functional domains of the Pik3ca protein (UniProt.org). G106D has been identified in the scientific literature (PMID: 27555788), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA G106S missense unknown PIK3CA G106S does not lie within any known functional domains of the Pik3ca protein (UniProt.org). G106S has been identified in sequencing studies (PMID: 28500398, PMID: 23700467, PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA G12D missense unknown PIK3CA G12D does not lie within any known functional domains of the Pik3ca protein (UniProt.org). G12D has been identified in sequencing studies (PMID: 23933559, PMID: 32947236), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G364A missense unknown PIK3CA G364A lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). G364A has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA G451_D454del deletion unknown PIK3CA G451_D454del results in the deletion of four amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 451 to 454 (UniProt.org). G451_D454del has been identified in sequencing studies (PMID: 26587011), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G463_N465del deletion unknown PIK3CA G463_N465del results in the deletion of three amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 463 to 465 (UniProt.org). G463_N465del has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA G463_N465delinsD indel unknown PIK3CA G463_N465delinsD results in the deletion of three amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 463 to 465, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). G463_N465delinsD has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA G914R missense unknown PIK3CA G914R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G914R has been identified in sequencing studies (PMID: 30709910, PMID: 39284955, PMID: 27170661), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2025).
PIK3CA H1047D missense unknown PIK3CA H1047D is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047D has been identified in sequencing studies (PMID: 36495126), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H1047I missense unknown PIK3CA H1047I is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047I has been identified in the scientific literature (PMID: 38369783), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA H1047K missense unknown PIK3CA H1047K is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047K has been identified in the scientific literature (PMID: 27374081, PMID: 26783290, PMID: 34159748), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H1047N missense unknown PIK3CA H1047N is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047N has been identified in sequencing studies (PMID: 35693289, PMID: 25234657), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jan 2026).
PIK3CA H1047P missense unknown PIK3CA H1047P is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047P has been identified in sequencing studies (PMID: 22357840, PMID: 34804623, PMID: 33016334), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA H1047Q missense unknown PIK3CA H1047Q is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047Q has been identified in sequencing studies (PMID: 31158500, PMID: 30547809, PMID: 35880223), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H1047T missense unknown PIK3CA H1047T is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047T has been identified in the scientific literature (PMID: 29636477), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA H1048L missense unknown PIK3CA H1048L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1048L has been identified in the scientific literature (PMID: 32042320), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA H1048R missense unknown PIK3CA H1048R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1048R has been identified in the scientific literature (PMID: 35639393, PMID: 30181556, PMID: 28638113), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA H1065L missense unknown PIK3CA H1065L does not lie within any known functional domain of the Pik3ca protein (UniProt.org). H1065L has been identified in the scientific literature (PMID: 29515801, PMID: 27334835, PMID: 18084252), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H1065Y missense unknown PIK3CA H1065Y does not lie within any known functional domains of the Pik3ca protein (UniProt.org). H1065Y has been identified in sequencing studies (PMID: 15289301, PMID: 30503610, PMID: 33868589), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H419_C420del deletion unknown PIK3CA H419_C420del results in the deletion of two amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 419 to 420 (UniProt.org). H419_C420del has been identified in sequencing studies (PMID: 30212483, PMID: 26051240, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H419_L422del deletion unknown PIK3CA H419_L422del results in the deletion of four amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 419 to 422 (UniProt.org). H419_L422del has been identified in the scientific literature (PMID: 41321318), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H450_L455del deletion unknown PIK3CA H450_L455del results in the deletion of six amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 450 to 455 (UniProt.org). H450_L455del has been identified in sequencing studies (PMID: 30393068, PMID: 32869930), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA H47R missense unknown PIK3CA H47R lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). H47R has been identified in sequencing studies (PMID: 31780696, PMID: 30267214), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Dec 2025).
PIK3CA H665Q missense unknown PIK3CA H665Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). H665Q has been identified in sequencing studies (PMID: 23028188, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2025).
PIK3CA H701R missense unknown PIK3CA H701R does not lie within any known functional domains of the Pik3ca protein (UniProt.org). H701R has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA I102_E103delinsK indel unknown PIK3CA I102_E103delinsK results in a deletion of two amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acids 102 to 103, combined with the insertion of a lysine (K) at the same site (UniProt.org). I102_E103delinsK has been identified in sequencing studies (PMID: 30393068, PMID: 33083132), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA I102del deletion unknown PIK3CA I102del results in the deletion of an amino acid in the PI3K-ABD domain of the Pik3ca protein (UniProt.org). I102del has been identified in sequencing studies (PMID: 26722235, PMID: 28528867, PMID: 40507285), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA I1058F missense unknown PIK3CA I1058F does not lie within any known functional domains of the Pik3ca protein (UniProt.org). I1058F has been identified in sequencing studies (PMID: 17062663, PMID: 21266528, PMID: 32958578), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA I1058L missense unknown PIK3CA I1058L does not lie within any known functional domains of the Pik3ca protein (UniProt.org). I1058L has been identified in the scientific literature (PMID: 32958578, PMID: 38292977), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA I112_L113del deletion unknown PIK3CA I112_L113del results in the deletion of two amino acids of the Pik3ca protein from amino acids 112 to 113 (UniProt.org). I112_L113del has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA I197K missense unknown PIK3CA I197K lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). I197K has been identified in sequencing studies (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA I20M missense unknown PIK3CA I20M lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). I20M has been identified in the scientific literature (PMID: 29426295, PMID: 28119489), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA I273V missense unknown PIK3CA I273V lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). I273V has been identified in the scientific literature (PMID: 27126994), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA I406V missense unknown PIK3CA I406V lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). I406V has been identified in sequencing studies (PMID: 23028188, PMID: 21984976, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2025).
PIK3CA I817F missense unknown PIK3CA I817F lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). I817F has been identified in the scientific literature (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA I889M missense unknown PIK3CA I889M lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). I889M has been identified in sequencing studies (PMID: 29212173, PMID: 22975805, PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA I910M missense unknown PIK3CA I910M lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). I910M has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA K111_I112del deletion unknown PIK3CA K111_I112del results in the deletion of two amino acids of the Pik3ca protein from amino acids 111 to 112 (UniProt.org). K111_I112del has been identified in sequencing studies (PMID: 25742471), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA K111Q missense unknown PIK3CA K111Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). K111Q has been identified in sequencing studies (PMID: 30393068, PMID: 36800542), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA K111R missense unknown PIK3CA K111R does not lie within any known functional domains of the Pik3ca protein (UniProt.org). K111R has been identified in sequencing studies (PMID: 28027320, PMID: 27641744, PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA K179T missense unknown PIK3CA K179T does not lie within any known functional domains of the Pik3ca protein (UniProt.org). K179T has been identified in sequencing studies (PMID: 18224685), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA K567R missense unknown PIK3CA K567R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). K567R has been identified in the scientific literature (PMID: 17314276), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L1001P missense unknown PIK3CA L1001P lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). L1001P has been identified in the scientific literature (PMID: 27369867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L10_M16del deletion unknown PIK3CA L10_M16del results in the deletion of seven amino acids of the Pik3ca protein from amino acids 10 to 16 (UniProt.org). L10_M16del has been identified in the scientific literature (PMID: 28528867, PMID: 23708221), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L10_P18del deletion unknown PIK3CA L10_P18del results in the deletion of nine amino acids of the Pik3ca protein from amino acids 10 to 18 (UniProt.org). L10_P18del has been identified in the scientific literature (PMID: 35917491), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L113del deletion unknown PIK3CA L113del results in the deletion of an amino acid of the Pik3ca protein at amino acid 113 (UniProt.org). L113del has been identified in sequencing studies (PMID: 30138724, PMID: 31980592, PMID: 37465112), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L339I missense unknown PIK3CA L339I lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). L339I has been identified in the scientific literature (PMID: 25078343, PMID: 28978093, PMID: 28027320), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L436_P449dup duplication unknown PIK3CA L436_P449dup indicates the insertion of 14 duplicate amino acids, leucine (L)-436 through proline (P)-449, in the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). L436_P449dup has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L452_G460del deletion unknown PIK3CA L452_G460del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 452 to 460 (UniProt.org). L452_G460del has been identified in the scientific literature (PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L452_P458del deletion unknown PIK3CA L452_P458del results in the deletion of seven amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 452 to 458 (UniProt.org). L452_P458del has been identified in sequencing studies (PMID: 32494066), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA L455_G460delinsF indel unknown PIK3CA L455_G460delinsF results in a deletion of six amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 455 to 460, combined with the insertion of a phenylalanine (F) at the same site (UniProt.org). L455_G460delinsF has been identified in sequencing studies (PMID: 35242279), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA L456R missense unknown PIK3CA L456R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). L456R has been identified in sequencing studies (PMID: 25528496, PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA L866F missense unknown PIK3CA L866F lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). L866F has been identified in sequencing studies (PMID: 18772396, PMID: 38398132), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA M1004R missense unknown PIK3CA M1004R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1004R has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA M1004V missense unknown PIK3CA M1004V lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1004V has been identified in the scientific literature (PMID: 32123305), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA M1043T missense unknown PIK3CA M1043T lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043T has been identified in sequencing studies (PMID: 28830922, PMID: 25528496, PMID: 23370426), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N1000D missense unknown PIK3CA N1000D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1000D has been identified in the scientific literature (PMID: 22949056, PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N1044D missense unknown PIK3CA N1044D lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044D has been identified in the scientific literature (PMID: 27468883, PMID: 34287479, PMID: 18180098), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N1044I missense unknown PIK3CA N1044I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044I has been identified in sequencing studies (PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA N1044S missense unknown PIK3CA N1044S lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044S has been identified in the scientific literature (PMID: 26085511, PMID: 38148069, PMID: 32816889), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N1044Y missense unknown PIK3CA N1044Y lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). N1044Y has been identified in the scientific literature (PMID: 29636477, PMID: 27191687, PMID: 27548314), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N107I missense unknown PIK3CA N107I does not lie within any known functional domains of the Pik3ca protein (UniProt.org). N107I has been identified in sequencing studies (PMID: 30393068, PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N107S missense unknown PIK3CA N107S does not lie within any known functional domains of the Pik3ca protein (UniProt.org). N107S has been identified in the scientific literature (PMID: 32349306), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N114del deletion unknown PIK3CA N114del results in the deletion of an amino acid of the Pik3ca protein at amino acid 114 (UniProt.org). N114del has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA N170S missense unknown PIK3CA N170S does not lie within any known functional domains of the Pik3ca protein (UniProt.org). N170S has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N345D missense unknown PIK3CA N345D lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345D has been identified in the scientific literature (PMID: 30562681, PMID: 27034166, PMID: 36010918), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N345H missense unknown PIK3CA N345H lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345H has been identified in the scientific literature (PMID: 25846456, PMID: 30181556, PMID: 26650777), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N345S missense unknown PIK3CA N345S lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345S has been identified in the scientific literature (PMID: 25769001, PMID: 28222664, PMID: 27283993), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N345Y missense unknown PIK3CA N345Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345Y has been identified in sequencing studies (PMID: 30181556, PMID: 29338072, PMID: 36053728), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N347K missense unknown PIK3CA N347K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N347K has been identified in sequencing studies (PMID: 29558370, PMID: 25078343), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA N457K missense unknown PIK3CA N457K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N457K has been identified in the scientific literature (PMID: 29636477, PMID: 19844788), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA P104_V105del deletion unknown PIK3CA P104_V105del results in the deletion of two amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acids 104 to 105 (UniProt.org). P104_V105del has been identified in sequencing studies (PMID: 28178681, PMID: 38750402), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P104R missense unknown PIK3CA P104R lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). P104R has been identified in sequencing studies (PMID: 30393068, PMID: 27502118, PMID: 30715630), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P217S missense unknown PIK3CA P217S lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). P217S has been identified in sequencing studies (PMID: 30503610), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA P298S missense unknown PIK3CA P298S does not lie within any known functional domains of the Pik3ca protein (UniProt.org). P298S has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA P377R missense unknown PIK3CA P377R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P377R has been identified in sequencing studies (PMID: 27302369, PMID: 30766968), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P421L missense unknown PIK3CA P421L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P421L has been identified in sequencing studies (PMID: 30275180, PMID: 20049837, PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P449_L452del deletion unknown PIK3CA P449_L452del results in the deletion of four amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 449 to 452 (UniProt.org). P449_L452del has been identified in sequencing studies (PMID: 30393068, PMID: 33314633, PMID: 39392509), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P449_L455del deletion gain of function PIK3CA P449_L455del results in the deletion of seven amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 449 to 455 (UniProt.org). P449_L455del results in increased Akt phosphorylation in cell culture relative to wild-type Pik3ca in culture (PMID: 21266528) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
PIK3CA P449_L456del deletion unknown PIK3CA P449_L456del results in the deletion of eight amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 449 to 456 (UniProt.org). P449_L456del has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA P449L missense unknown PIK3CA P449L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P449L has been identified in sequencing studies (PMID: 29032825, PMID: 25759019, PMID: 40798945), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA P449S missense unknown PIK3CA P449S lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P449S has been identified in sequencing studies (PMID: 29106415, PMID: 30503610, PMID: 32508039), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P466S missense unknown PIK3CA P466S lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P466S has been identified in sequencing studies (PMID: 25759019, PMID: 22622578, PMID: 35761395), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P471A missense unknown PIK3CA P471A lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). P471A has been identified in sequencing studies (PMID: 30393068), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA P539S missense unknown PIK3CA P539S lies within the PIK helical domain of the Pik3ca protein (UniProt.org). P539S has been identified in the scientific literature (PMID: 34287479, PMID: 31254045, PMID: 22982087), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Q546_E547insQTS insertion unknown PIK3CA Q546_E547insQTS results in the insertion of three amino acids in the PIK helical domain of the Pik3ca protein between amino acids 546 and 547 (UniProt.org). Q546_E547insQTS has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Q546H missense unknown PIK3CA Q546H lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546H has been identified in the scientific literature (PMID: 19148475, PMID: 28860563, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Q643H missense unknown PIK3CA Q643H lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q643H has been identified in sequencing studies (PMID: 31501609), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA Q75K missense unknown PIK3CA Q75K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Q75K has been identified in sequencing studies (PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA Q859H missense unknown PIK3CA Q859H lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). Q859H has been associated with resistance to PI3K inhibitors in culture (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026). Y
PIK3CA Q859K missense unknown PIK3CA Q859K lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). Q859K has been associated with resistance to PI3K inhibitors in culture (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026). Y
PIK3CA R1023L missense unknown PIK3CA R1023L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R1023L has been identified in the scientific literature (PMID: 19844788), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2026).
PIK3CA R1023Q missense unknown PIK3CA R1023Q lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R1023Q has been identified in the scientific literature (PMID: 27699769, PMID: 36620501, PMID: 33954864), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA R108C missense unknown PIK3CA R108C lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108C results in increased transformation ability as compared to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R108del deletion unknown PIK3CA R108del results in the deletion of an amino acid in the p85 domain of the Pik3ca protein at amino acid 108 (PMID: 15016963). R108del has been identified in the scientific literature (PMID: 29181861, PMID: 30537512, PMID: 27161972), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R108P missense unknown PIK3CA R108P lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108P has been identified in sequencing studies (PMID: 15016963, PMID: 33314633), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA R108S missense unknown PIK3CA R108S lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108S has been identified in the scientific literature (PMID: PMID: 31515834), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R115Q missense unknown PIK3CA R115Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). R115Q has been identified in the scientific literature (PMID: 37925498), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R357G missense unknown PIK3CA R357G lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R357G has been identified in sequencing studies (PMID: 23797736), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R357L missense unknown PIK3CA R357L lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R357L has been identified in the scientific literature (PMID: 32578376), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R357Q missense unknown PIK3CA R357Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R357Q has been identified in sequencing studies (PMID: 25233892, PMID: 23528559, PMID: 28446505), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R38G missense unknown PIK3CA R38G lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38G has been identified in the scientific literature (PMID: 27425854, PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R38L missense unknown PIK3CA R38L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38L has been identified in sequencing studies (PMID: 28528867), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R401Q missense unknown PIK3CA R401Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). R401Q has been identified in sequencing studies (PMID: 29575851), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R524M missense unknown PIK3CA R524M lies within the PIK helical domain of the Pik3ca protein (UniProt.org). R524M has been identified in the scientific literature (PMID: 16822308), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R617W missense unknown PIK3CA R617W lies within the PIK helical domain of the Pik3ca protein (UniProt.org). R617W has been identified in sequencing studies (PMID: 23765252, PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R770Q missense unknown PIK3CA R770Q lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). R770Q has been identified in the scientific literature (PMID: 26681737, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R777M missense unknown PIK3CA R777M lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). R777M has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R88L missense unknown PIK3CA R88L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R88L has been identified in sequencing studies (PMID: 28002797, PMID: 27672108, PMID: 36299398), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R916C missense unknown PIK3CA R916C lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R916C has been identified in the scientific literature (PMID: 30150660, PMID: 24356096, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R93L missense unknown PIK3CA R93L lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R93L has been identified in sequencing studies (PMID: 26401016, PMID: 26080840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA R992P missense unknown PIK3CA R992P lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). R992P has been identified in sequencing studies (PMID: 39176270), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA S405F missense unknown PIK3CA S405F lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). S405F has been identified in sequencing studies (PMID: 24695838, PMID: 27738081, PMID: 26226847), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA S405Y missense unknown PIK3CA S405Y lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). S405Y has been identified in sequencing studies (PMID: 30337457), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA S553N missense unknown PIK3CA S553N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). S553N has been identified in sequencing studies (PMID: 24983367, PMID: 23665199, PMID: 23066039), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA S773F missense unknown PIK3CA S773F lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). S773F has been identified in sequencing studies (PMID: 39266536), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA S900I missense unknown PIK3CA S900I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). S900I has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA T1025I missense unknown PIK3CA T1025I lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). T1025I has been identified in the scientific literature (PMID: 36916425, PMID: 25680416, PMID: 22949056), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA T1025K missense unknown PIK3CA T1025K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). T1025K has been identified in sequencing studies (PMID: 27672108), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA T324I missense unknown PIK3CA T324I does not lie within any known functional domains of the Pik3ca protein (UniProt.org). T324I has been identified in the scientific literature (PMID: 16778113, PMID: 18376308, PMID: 18343945), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA T544I missense unknown PIK3CA T544I lies within the PIK helical domain of the Pik3ca protein (UniProt.org). T544I has been identified in the scientific literature (PMID: 25073438, PMID: 26276776, PMID: 22357840), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA T544N missense unknown PIK3CA T544N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). T544N has been identified in the scientific literature (PMID: 26276776, PMID: 25722288, PMID: 33842311), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA V146I missense unknown PIK3CA V146I does not lie within any known functional domains of the Pik3ca protein (UniProt.org). V146I has been identified in the scientific literature (PMID: 26080840, PMID: 38425401), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Feb 2026).
PIK3CA V196I missense unknown PIK3CA V196I lies within the PI3K-RBD domain of the Pik3ca protein (UniProt.org). V196I has been identified in sequencing studies (PMID: 32127467), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA W11_H14delinsY indel unknown PIK3CA W11_H14delinsY results in a deletion of four amino acids of the Pik3ca protein from amino acids 11 to 14, combined with the insertion of a tyrosine (Y) at the same site (UniProt.org). W11_H14delinsY has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA W11_P18del deletion unknown PIK3CA W11_P18del results in the deletion of eight amino acids of the Pik3ca protein from amino acids 11 to 18 (UniProt.org). W11_P18del has not been characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA W11C missense unknown PIK3CA W11C does not lie within any known functional domains of the Pik3ca protein (UniProt.org). W11C has been identified in the scientific literature (PMID: 33754015, PMID: 37713162), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA W446_G460delinsC indel unknown PIK3CA W446_G460delinsC results in a deletion of 15 amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 446 to 460, combined with the insertion of a cystine (C) at the same site (UniProt.org). W446_G460delinsC has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA W552G missense unknown PIK3CA W552G lies within the PIK helical domain of the Pik3ca protein (UniProt.org). W552G has been identified in the scientific literature (PMID: 24983367, PMID: 16778113), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA W780R missense unknown PIK3CA W780R lies within the PI3K/PI4K catalytic domain of the Pik3ca protein (UniProt.org). W780R has been associated with resistance to PI3K inhibitors in culture (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026). Y
PIK3CA Y1021F missense unknown PIK3CA Y1021F lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021F has been identified in the scientific literature (PMID: 22949056, PMID: 24983367, PMID: 24440717), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Y1021H missense unknown PIK3CA Y1021H lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021H has been identified in the scientific literature (PMID: 41068324, PMID: 28222664, PMID: 40314982), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Y1021N missense unknown PIK3CA Y1021N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Y1021N has been identified in the scientific literature (PMID: 22949056, PMID: 28502728, PMID: 15289301), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Y165H missense unknown PIK3CA Y165H does not lie within any known functional domains of the Pik3ca protein (UniProt.org). PIK3CA Y165H has been identified in sequencing studies (PMID: 27548314), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PIK3CA Y56H missense unknown PIK3CA Y56H lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Y56H has not been characterized in the scientific literature and therefore, its effect on Pik3ca protein function is unknown (PubMed, Mar 2026).
PTEN A120T missense unknown PTEN A120T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A120T has been identified in sequencing studies (PMID: 23633456, PMID: 25424851, PMID: 31645765), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2025).
PTEN A121T missense unknown PTEN A121T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A121T has been identified in the scientific literature (PMID: 24336570, PMID: 24468202), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN A126T missense unknown PTEN A126T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126T is predicted to lead to a collapsed P loop formation incapable of interacting with the WPD loop resulting in dehydration of the catalytic site (PMID: 37935253), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN C105R missense unknown PTEN C105R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105R has been identified in the scientific literature (PMID: 17219201), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN C105S missense unknown PTEN C105S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105S has been identified in the scientific literature (PMID: 11916965), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN C124W missense unknown PTEN C124W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124W has been identified in the scientific literature (PMID: 29706350), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN C124Y missense unknown PTEN C124Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124Y has been identified in sequencing studies (PMID: 12695913, PMID: 37686092, PMID: 21869887), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN C211Y missense unknown PTEN C211Y lies within the C2 tensin-type domain of the Pten protein (UniProt.org). C211Y has been identified in the scientific literature (PMID: 28027320), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN C71F missense unknown PTEN C71F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C71F has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN D107H missense unknown PTEN D107H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D107H has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN D107N missense unknown PTEN D107N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D107N has been identified in the scientific literature (PMID: 27221918, PMID: 26462025, PMID: 26800850), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN D109N missense unknown PTEN D109N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D109N retains Akt phosphorylation and results in mRNA expression similar to wild-type Pten but demonstrates reduced protein expression in a patient sample in the context of a G36R mutation (PMID: 36591942), but has not been individually characterized, and therefore, its effect on protein function is unknown.
PTEN D115Y missense unknown PTEN D115Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D115Y has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN D24E missense unknown PTEN D24E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24E has been identified in sequencing studies (PMID: 32187361, PMID: 32855441), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2025).
PTEN E18G missense unknown PTEN E18G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E18G results in mRNA and protein expression similar to wild-type Pten in culture but leads to a loss of phosphatase activity as indicated by loss of Akt phosphorylation and reduced expression in a patient sample in the context of a C105F mutation (PMID: 36591942), but has not been individually characterized, and therefore, its effect on protein function is unknown.
PTEN E242K missense unknown PTEN E242K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E242K has been identified in sequencing studies (PMID: 15069681, PMID: 31468114), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN E256Q missense unknown PTEN E256Q lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E256Q has been identified in sequencing studies (PMID: 23633456), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN E285K missense unknown PTEN E285K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E285K has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN E288K missense unknown PTEN E288K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E288K has been identified in sequencing studies (PMID: 10955808), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN E291K missense unknown PTEN E291K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E291K has been identified in sequencing studies (PMID: 15923161, PMID: 17924977), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN E314V missense unknown PTEN E314V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E314V has been identified in the scientific literature (PMID: 29785012, PMID: 29706350), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN F200S missense unknown PTEN F200S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F200S has been identified in sequencing studies (PMID: 27882345, PMID: 34759319), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2025).
PTEN F241L missense unknown PTEN F241L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F241L has been identified in sequencing studies (PMID: 33001984), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN F337fs frameshift unknown PTEN F337fs results in a change in the amino acid sequence of the Pten protein beginning at 337 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). F337fs has been identified in sequencing studies (PMID: 28027320), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN F341C missense unknown PTEN F341C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F341C has been identified in the scientific literature (PMID: 35252866), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN F56V missense unknown PTEN F56V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F56V has been identified in sequencing studies (PMID: 18757403, PMID: 11395387, PMID: 38282550), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN G132A missense unknown PTEN G132A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G132A has been identified in sequencing studies (PMID: 33237934, PMID: 24705250), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN G156R missense unknown PTEN G156R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G156R is predicted to affect the function of Pten by structural modeling (PMID: 37843401), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN G251_D252del deletion unknown PTEN G251_D252del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 251 to 252 (UniProt.org). G251_D252del has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN G251A missense unknown PTEN G251A lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251A has been identified in sequencing studies (PMID: 39143224), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2025).
PTEN G251D missense unknown PTEN G251D lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251D is associated with decreased Pten protein level and increased phosphorylation of Akt and S6 in a patient tumor sample (PMID: 25003235), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown.
PTEN G251del deletion unknown PTEN G251del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 251 (UniProt.org). G251del has been identified in the scientific literature (PMID: 35171658), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN G251S missense unknown PTEN G251S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251S has been identified in sequencing studies (PMID: 26010451, PMID: 38092180), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2025).
PTEN G293V missense unknown PTEN G293V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G293V has been identified in the scientific literature (PMID: 27194209, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN H61N missense unknown PTEN H61N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61N has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN H61Y missense unknown PTEN H61Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61Y has been identified in the scientific literature (PMID: 21470976, PMID: 18215105), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN I253T missense unknown PTEN I253T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). I253T has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN I67T missense unknown PTEN I67T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I67T has been identified in sequencing studies (PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN I67V missense unknown PTEN I67V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I67V has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN I8N missense unknown PTEN I8N lies within the lipid binding domain of the Pten protein (PMID: 25263454). I8N has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN K128_R130del deletion loss of function PTEN K128_R130del results in the deletion of 3 amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 128 to 130 (UniProt.org). K128_R130del confers a loss of function on the Pten protein as indicated by failure to regulate glucose uptake and to dephosphorylate AKT in cell culture (PMID: 27829222).
PTEN K60N missense unknown PTEN K60N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K60N has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN K60T missense unknown PTEN K60T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K60T has been identified in the scientific literature (PMID: 24647592), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN K66E missense unknown PTEN K66E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66E has been identified in sequencing studies (PMID: 21103049, PMID: 29575851), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN K66N missense unknown PTEN K66N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66N has been identified in sequencing studies (PMID: 23525077, PMID: 21266528), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN K66Q missense unknown PTEN K66Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66Q has been identified in sequencing studies (PMID: 10851265), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN L108_D109del deletion unknown PTEN L108_D109del results in the deletion of two amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 108 to 109 (UniProt.org). L108_D109del has been identified in sequencing studies (PMID: 18757403), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN L108F missense unknown PTEN L108F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L108F has been identified in sequencing studies (PMID: 30715630), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2025).
PTEN L112I missense unknown PTEN L112I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112I has been identified in sequencing studies (PMID: 32540221), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN L247F missense unknown PTEN L247F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L247F has been identified in sequencing studies (PMID: 23274167), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN L320V missense unknown PTEN L320V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L320V has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN L345R missense unknown PTEN L345R lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L345R has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Sep 2025).
PTEN L70H missense unknown PTEN L70H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L70H has been identified in sequencing studies (PMID: 26831717), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN M1? unknown unknown PTEN M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Pten protein. M1? has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2025).
PTEN M35I missense unknown PTEN M35I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M35I has been identified in the scientific literature (PMID: 29416795), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN M35L missense unknown PTEN M35L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M35L has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN N323K missense unknown PTEN N323K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N323K has been identified in the scientific literature (PMID: 14724591), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN N323T missense unknown PTEN N323T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N323T has been identified in sequencing studies (PMID: 33720082), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN N340fs frameshift unknown PTEN N340fs results in a change in the amino acid sequence of the Pten protein beginning at aa 340 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N340fs has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN N69D missense unknown PTEN N69D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N69D has been identified in the scientific literature (PMID: 26561558), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN P204A missense unknown PTEN P204A lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P204A has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN P213S missense unknown PTEN P213S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P213S has been identified in the scientific literature (PMID: 18953432, PMID: 27756406), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN P246S missense unknown PTEN P246S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P246S has been identified in the scientific literature (PMID: 15195137), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2025).
PTEN P248H missense unknown PTEN P248H lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P248H has been identified in sequencing studies (PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN P248L missense unknown PTEN P248L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P248L has been identified in the scientific literature (PMID: 25495427), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN P283L missense unknown PTEN P283L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P283L has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN P339A missense unknown PTEN P339A lies within the C2 tensin-type domain and NOP53-interacting region of the Pten protein (UniProt.org). P339A has been identified in sequencing studies (PMID: 34759319), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2025).
PTEN P339S missense unknown PTEN P339S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P339S has been identified in the scientific literature (PMID: 26645239, PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN P38S missense unknown PTEN P38S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P38S has been identified in the scientific literature (PMID: 15195137, PMID: 31025390, PMID: 32913971), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN P96L missense unknown PTEN P96L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96L has been identified in sequencing studies (PMID: 18772396, PMID: 33294271), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN P96S missense unknown PTEN P96S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96S has been identified in the scientific literature (PMID: 22653804, PMID: 29681454, PMID: 24468202), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN P96T missense unknown PTEN P96T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96T has been identified in sequencing studies (PMID: 24132290), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN Q110K missense unknown PTEN Q110K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q110K has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN Q214_F215del deletion unknown PTEN Q214_F215del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 214 to 215 (UniProt.org). Q214_F215del has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, May 2026).
PTEN R173S missense unknown PTEN R173S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R173S has been identified in the scientific literature (PMID: 23434733), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN R308C missense unknown PTEN R308C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R308C has been identified in the scientific literature (PMID: 32754865), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN R335G missense unknown PTEN R335G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R335G has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN R335P missense unknown PTEN R335P lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R335P has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Sep 2025).
PTEN R47M missense unknown PTEN R47M lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R47M has been identified in sequencing studies (PMID: 39394200), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN S170G missense unknown PTEN S170G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170G has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN S170I missense loss of function - predicted PTEN S170I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170I results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.
PTEN S338fs frameshift unknown PTEN S338fs results in a change in the amino acid sequence of the Pten protein beginning at 338 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). S338fs has been identified in the scientific literature (PMID: 30301868), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN S338T missense unknown PTEN S338T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). S338T has been identified in sequencing studies (PMID: 11555573), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN S59L missense unknown PTEN S59L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S59L has been identified in sequencing studies (PMID: 19962665), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN T167A missense loss of function PTEN T167A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T176A results in decreased phosphatase activity and partial inhibition of Pi3k activity in an yeast assay (PMID: 21828076).
PTEN T277I missense unknown PTEN T277I lies within the C2 tensin-type domain of the Pten protein (UniProt.org). T277I has been identified in sequencing studies (PMID: 23917401, PMID: 32351019, PMID: 35052351), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN V119K missense unknown PTEN V119K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). V119K has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN V175A missense unknown PTEN V175A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). V175A has been identified in the scientific literature (PMID: 27494611), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN V343L missense unknown PTEN V343L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V343L has not been identified in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2026).
PTEN Y174H missense unknown PTEN Y174H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y174H has been identified in the scientific literature (PMID: 32376656), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN Y177F missense unknown PTEN Y177F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y177F has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Apr 2026).
PTEN Y178C missense unknown PTEN Y178C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y178C has been identified in the scientific literature (PMID: 34775732), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN Y27C missense loss of function PTEN Y27C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y27C demonstrates reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270), and has been associated with resistance to Egfr inhibitors as a secondary resistance mutation in cell culture (PMID: 26181354, PMID: 29325035). Y
PTEN Y27H missense unknown PTEN Y27H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y27H has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN Y346* nonsense unknown PTEN Y346* results in a premature truncation of the Pten protein at amino acid 346 of 403 (UniProt.org). Y346* has been identified in sequencing studies (PMID: 33876771), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Mar 2026).
PTEN Y346C missense unknown PTEN Y346C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). Y346C has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN Y346D missense unknown PTEN Y346D lies within the C2 tensin-type domain of the Pten protein (UniProt.org). Y346D has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN Y346H missense unknown PTEN Y346H lies within the C2 tensin-type domain of the Pten protein (UniProt.org). Y346H has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
PTEN Y46C missense unknown PTEN Y46C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y46C has been identified in sequencing studies (PMID: 20530683, PMID: 28683746), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025).
RAD51B Q371* nonsense unknown RAD51B Q371* results in a premature truncation of the Rad51b protein at amino acid 371 of 384 (UniProt.org). Q371* has been identified in sequencing studies (PMID: 30205045, PMID: 36277904), but has not been biochemically characterized and therefore, its effect on Rad51b protein function is unknown (PubMed, Feb 2026).
RAD51B V207L missense unknown RAD51B V207L does not lie within any known functional domains of the Rad51b protein (UniProt.org). V207L has been identified in sequencing studies (PMID: 26261251, PMID: 32659497, PMID: 36800845), but has not been biochemically characterized and therefore, its effect on Rad51b protein function is unknown (PubMed, Apr 2026).
RAD51C A155V missense unknown RAD51C A155V does not lie within any known functional domains of the Rad51c protein (UniProt.org). A155V has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C A279D missense unknown RAD51C A279D does not lie within any known functional domains of the Rad51c protein (UniProt.org). A279D has not been characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C E45D missense unknown RAD51C E45D lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E45D has been identified in sequencing studies (PMID: 24185509), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C E59K missense unknown RAD51C E59K lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E59K has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C E92K missense unknown RAD51C E92K lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). E92K has been identified in the scientific literature (PMID: 26261251), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Feb 2026).
RAD51C G162R missense unknown RAD51C G162R does not lie within any known functional domains of the Rad51c protein (UniProt.org). G162R results in decreased interaction with Rad51d, Rad51b, and Xrcc3 in a yeast assay (PMID: 36099300), but has not been fully biochemically characterized and therefore, its effect on Rad51c protein function is unknown.
RAD51C H250Y missense unknown RAD51C H250Y does not lie within any known functional domains of the Rad51c protein (UniProt.org). H250Y has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C K320M missense unknown RAD51C K320M does not lie within any known functional domains of the Rad51c protein (UniProt.org). K320M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C L357S missense unknown RAD51C L357S does not lie within any known functional domains of the Rad51c protein (UniProt.org). L357S has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C M118I missense unknown RAD51C M118I lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). M118I has been identified in the scientific literature (PMID: 21798893, PMID: 23333482), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C M1? unknown unknown RAD51C M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Rad51c protein. M1? has not been characterized, however, a version of Rad51c utilizing an alternate methionine at codon 10 decreases mitomycin C sensitivity similar to full-length Rad51c (PMID: 12966089), and therefore, its effect on Rad51c function is unknown (PubMed, May 2026).
RAD51C N71D missense unknown RAD51C N71D lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). N71D has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C P21S missense no effect - predicted RAD51C P21S lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). P21S binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay (PMID: 36099300) and retains the ability to induce foci formation in culture (PMID: 37253112), and therefore, is predicted to have no effect on Rad51c protein function.
RAD51C P21T missense unknown RAD51C P21T lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). P21T has been identified in the scientific literature (PMID: 36099300), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C P330H missense unknown RAD51C P330H does not lie within any known functional domains of the Rad51c protein (UniProt.org). P330H retains binding with Rad51b and Xrcc3 and rescues survival in Rad51c-null cells in culture, however, results in decreased binding with Rad51d in a yeast assay and reduced homologous recombination activity in cultured cells (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
RAD51C R193Q missense unknown RAD51C R193Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193Q has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C R237* nonsense unknown RAD51C R237* results in a premature truncation of the Rad51c protein at amino acid 237 of 376 (UniProt.org). R237* has been identified in the scientific literature (PMID: 37129948, PMID: 36451132, PMID: 40282418), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Feb 2026).
RAD51C R319Q missense unknown RAD51C R319Q does not lie within any known functional domains of the Rad51c protein (UniProt.org). R319Q has been identified in sequencing studies (PMID: 26261251, PMID: 38909640), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51C T5R missense unknown RAD51C T5R lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). T5R has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Feb 2026).
RAD51C V350I missense unknown RAD51C V350I does not lie within any known functional domains of the Rad51c protein (UniProt.org). V350I has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, Dec 2025).
RAD51D A143T missense unknown RAD51D A143T does not lie within any known functional domains of the Rad51d protein (UniProt.org). A143T has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Feb 2026).
RAD51D A152D missense unknown RAD51D A152D does not lie within any known functional domains of the Rad51d protein (UniProt.org). A152D has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D C9S missense unknown RAD51D C9S lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). C9S has been identified in the scientific literature (PMID: 22986143, PMID: 21822267, PMID: 25340522), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D D90G missense unknown RAD51D D90G does not lie within any known functional domains of the Rad51d protein (UniProt.org). D90G demonstrates impaired Xrcc2 binding in culture (PMID: 30836272), but has not been fully biochemically characterized and therefore, its effect on Rad51d protein function is unknown.
RAD51D G110S missense unknown RAD51D G110S lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). G110S has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D G258Sfs*50 frameshift unknown RAD51D G258Sfs*50 indicates a shift in the reading frame starting at amino acid 258 and terminating 50 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). G258Sfs*50 has been identified in the scientific literature (PMID: 28588062), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D K76N missense unknown RAD51D K76N lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). K76N has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D L215Tfs*112 frameshift unknown RAD51D L215Tfs*112 indicates a shift in the reading frame starting at amino acid 215 and terminating 112 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). L215Tfs*112 has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D R253Q missense unknown RAD51D R253Q does not lie within any known functional domains of the Rad51d protein (UniProt.org). R253Q has been identified in sequencing studies (PMID: 29522266, PMID: 36072793, PMID: 39358333), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, May 2026).
RAD51D S298Y missense unknown RAD51D S298Y does not lie within any known functional domains of the Rad51d protein (UniProt.org). S298Y has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD51D S33F missense unknown RAD51D S33F lies within the region of the Rad51d protein that preferentially binds ssDNA (UniProt.org). S33F has not been characterized in the scientific literature and therefore, its effect on Rad51d protein function is unknown (PubMed, Dec 2025).
RAD54L F82S missense loss of function - predicted RAD54L F82S does not lie within any known functional domains of the Rad54l protein (UniProt.org). F82S results in loss of Rad51 binding ability when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), and therefore, is predicted to lead to a loss of Rad54l protein function.
RAD54L H110A missense unknown RAD54L H110A does not lie within any known functional domains of the Rad54l protein (UniProt.org). H110A retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown.
RAD54L L109Q missense unknown RAD54L L109Q does not lie within any known functional domains of the Rad54l protein (UniProt.org). L109Q retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown.
RAD54L P112A missense unknown RAD54L P112A does not lie within any known functional domains of the Rad54l protein (UniProt.org). P112A retains the ability to bind Rad51 when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), but has not been fully biochemically characterized and therefore, its effect on Rad54l protein function is unknown.
RAD54L P694L missense unknown RAD54L P694L does not lie within any known functional domains of the Rad54l protein (UniProt.org). P694L has not been characterized and therefore, its effect on Rad54l protein function is unknown (PubMed, Dec 2025).
RAD54L P85A missense loss of function - predicted RAD54L P85A does not lie within any known functional domains of the Rad54l protein (UniProt.org). P85A results in loss of Rad51 binding ability when expressed within an N-terminal Rad54l construct in a yeast two-hybrid assay (PMID: 16990250), and therefore, is predicted to lead to a loss of Rad54l protein function.
RB1 A488V missense unknown RB1 A488V lies within domain A of the Rb1 protein (UniProt.org). A488V has been identified in sequencing studies (PMID: 27203738), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2025).
RB1 A496V missense unknown RB1 A496V lies within domain A of the Rb1 protein (UniProt.org). A496V has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2025).
RB1 A525G missense unknown RB1 A525G lies within domain A of the Rb1 protein (UniProt.org). A525G has been identified in the scientific literature (PMID: 23532519), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 C712R missense loss of function RB1 C712R lies within domain B of the Rb1 protein (UniProt.org). C712R results in a loss of Rb1 protein function as demonstrated by reduced Rb1 phosphorylation and inability to bind E2f1 in in vitro assays, and reduced interaction with large T antigen in an yeast assay (PMID: 10486322).
RB1 E40K missense unknown RB1 E40K does not lie within any known functional domains of the Rb1 protein (UniProt.org). E40K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2025).
RB1 E440K missense unknown RB1 E440K lies within domain A of the Rb1 protein (UniProt.org). E440K has been identified in sequencing studies (PMID: 24121792, PMID: 32218800, PMID: 34480095), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 E843* nonsense unknown RB1 E843* results in a premature truncation of the Rb1 protein at amino acid 843 of 928 (UniProt.org). E843* has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 F755I missense unknown RB1 F755I lies within domain B of the Rb1 protein (UniProt.org). F755I has been identified in the scientific literature (PMID: 22084214, PMID: 19280657), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2026).
RB1 G449E missense unknown RB1 G449E lies within domain A of the Rb1 protein (UniProt.org). G449E has been identified in the scientific literature (PMID: 23532519, PMID: 15605413, PMID: 29997966), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2026).
RB1 G449R missense unknown RB1 G449R lies within domain A of the Rb1 protein (UniProt.org). G449R has been identified in sequencing studies (PMID: 26373574, PMID: 30578357, PMID: 24688104), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2026).
RB1 H483R missense unknown RB1 H483R lies within domain A of the Rb1 protein (UniProt.org). H483R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2026).
RB1 H483Y missense unknown RB1 H483Y lies within domain A of the Rb1 protein (UniProt.org). H483Y has been identified in the scientific literature (PMID: 21538077, PMID: 29236940, PMID: 33539671), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2026).
RB1 I348V missense unknown RB1 I348V does not lie within any known functional domains of the Rb1 protein (UniProt.org). I348V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 I388S missense unknown RB1 I388S lies within domain A of the Rb1 protein (UniProt.org). I388S has been identified in sequencing studies (PMID: 19593635, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 I680T missense unknown RB1 I680T lies within domain B of the Rb1 protein (UniProt.org). I680T has been identified in the scientific literature (PMID: 29525983, PMID: 27741505, PMID: 30148116), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 I724N missense unknown RB1 I724N lies within domain B of the Rb1 protein (UniProt.org). I724N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 I752S missense unknown RB1 I752S lies within domain B of the Rb1 protein (UniProt.org). I752S has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 I782M missense unknown RB1 I782M lies within domain C of the Rb1 protein (UniProt.org). I782M has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 K715E missense unknown RB1 K715E lies within domain B of the Rb1 protein (UniProt.org). K715E has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 K844S missense unknown RB1 K844S lies within domain C of the Rb1 protein (UniProt.org). K844S has been identified in the scientific literature (PMID: 31045832), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 K913R missense unknown RB1 K913R lies within domain C of the Rb1 protein (UniProt.org). K913R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 K94N missense unknown RB1 K94N does not lie within any known functional domains of the Rb1 protein (UniProt.org). K94N has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 L550I missense unknown RB1 L550I lies within domain A of the Rb1 protein (UniProt.org). L550I has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 L657P missense unknown RB1 L657P lies within domain B of the Rb1 protein (UniProt.org). L657P has been identified in the scientific literature (PMID: 10882758), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 L662P missense unknown RB1 L662P lies within domain B of the Rb1 protein (UniProt.org). L662P has been identified in the scientific literature (PMID: 10671068), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 L688R missense unknown RB1 L688R lies within domain B of the Rb1 protein (UniProt.org). L688R has been identified in the scientific literature (PMID: 17960112, PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 L797fs frameshift unknown RB1 L797fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 797 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). L797fs has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 M148T missense unknown RB1 M148T does not lie within any known functional domains of the Rb1 protein (UniProt.org). M148T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 M379L missense unknown RB1 M379L lies within domain A of the Rb1 protein (UniProt.org). M379L has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 M695V missense unknown RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 N849fs frameshift unknown RB1 N849fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 849 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). N849fs has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 P374A missense unknown RB1 P374A lies within domain A of the Rb1 protein (UniProt.org). P374A has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 P515L missense unknown RB1 P515L lies within domain A of the Rb1 protein (UniProt.org). P515L has been identified in the scientific literature (PMID: 23243591), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 P515T missense unknown RB1 P515T lies within domain A of the Rb1 protein (UniProt.org). P515T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Q121H missense unknown RB1 Q121H does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q121H has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Q257R missense unknown RB1 Q257R does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q257R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Q444H missense unknown RB1 Q444H lies within domain A of the Rb1 protein (UniProt.org). Q444H has been identified in sequencing studies (PMID: 24791139), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Q444L missense unknown RB1 Q444L lies within domain A of the Rb1 protein (UniProt.org). Q444L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Q702K missense unknown RB1 Q702K lies within domain B of the Rb1 protein (UniProt.org). Q702K has been identified in sequencing studies (PMID: 27147599, PMID: 27582626), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R251Q missense unknown RB1 R251Q does not lie within any known functional domains of the Rb1 protein (UniProt.org). R251Q has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R254K missense unknown RB1 R254K does not lie within any known functional domains of the Rb1 protein (UniProt.org). R254K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R255Q missense unknown RB1 R255Q does not lie within any known functional domains of the Rb1 protein (UniProt.org). R255Q has been identified in sequencing studies (PMID: 30610106, PMID: 40027148), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R272I missense unknown RB1 R272I does not lie within any known functional domains of the Rb1 protein (UniProt.org). R272I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R320L missense unknown RB1 R320L does not lie within any known functional domains of the Rb1 protein (UniProt.org). R320L has been identified in sequencing studies (PMID: 26343386, PMID: 28167203), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R451C missense unknown RB1 R451C lies within domain A of the Rb1 protein (UniProt.org). R451C has been identified in sequencing studies (PMID: 26373574, PMID: 25801821, PMID: 24376576), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R451H missense unknown RB1 R451H lies within domain A of the Rb1 protein (UniProt.org). R451H has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R552Q missense unknown RB1 R552Q lies within domain A of the Rb1 protein (UniProt.org). R552Q has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2025).
RB1 R621P missense unknown RB1 R621P lies within the spacer region of the Rb1 protein (UniProt.org). R621P has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R621S missense loss of function - predicted RB1 R621S lies within the spacer region of the Rb1 protein (UniProt.org). R621S results in loss of interaction with Kmt5b in cell culture and failure to induce apoptosis in Rb1-deficient zebrafish (PMID: 38637503), and therefore, is predicted to lead to a loss of Rb1 protein function.
RB1 R698I missense unknown RB1 R698I lies within domain B of the Rb1 protein (UniProt.org). R698I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R698W missense loss of function - predicted RB1 R698W lies within domain B of the Rb1 protein (UniProt.org). R698W results in decreased apoptotic function and protein stability (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function.
RB1 R787* nonsense unknown RB1 R787* results in a premature truncation of the Rb1 protein at amino acid 787 of 928 (UniProt.org). R787* has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 R787Q missense unknown RB1 R787Q lies within domain C of the Rb1 protein (UniProt.org). R787Q has been identified in the scientific literature (PMID: 15605413, PMID: 16269091), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R798W missense unknown RB1 R798W lies within domain C of the Rb1 protein (UniProt.org). R798W has been identified in the scientific literature (PMID: 9194486, PMID: 31411343, PMID: 33807452), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 R876C missense unknown RB1 R876C lies within domain C of the Rb1 protein (UniProt.org). R876C has been identified in sequencing studies (PMID: 19372580), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2025).
RB1 S127I missense unknown RB1 S127I does not lie within any known functional domains of the Rb1 protein (UniProt.org). S127I has been identified in sequencing studies (PMID: 33692861, PMID: 34521849), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2026).
RB1 S567L missense unknown RB1 S567L lies within domain A of the Rb1 protein (UniProt.org). S567L has been identified in the scientific literature (PMID: 28580595, PMID: 38219954, PMID: 39166960), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 S612C missense unknown RB1 S612C lies within the spacer region of the Rb1 protein (UniProt.org). S612C has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 S751Y missense unknown RB1 S751Y lies within domain B of the Rb1 protein (UniProt.org). S751Y has been identified in the scientific literature (PMID: 34456592), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2025).
RB1 S758L missense unknown RB1 S758L lies within domain B of the Rb1 protein (UniProt.org). S758L has been identified in the scientific literature (PMID: 26324360), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 S816* nonsense unknown RB1 S816* results in a premature truncation of the Rb1 protein at amino acid 816 of 928 (UniProt.org). S816* has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 S834* nonsense unknown RB1 S834* results in a premature truncation of the Rb1 protein at amino acid 834 of 928 (UniProt.org). S834* has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2026).
RB1 T738_R775del deletion unknown RB1 T738_R775del results in the deletion of 38 amino acids in domain B of the Rb1 protein from amino acids 738 to 775 (UniProt.org). T738_R775del has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2026).
RB1 V375F missense unknown RB1 V375F lies within domain A of the Rb1 protein (UniProt.org). V375F has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 V654L missense unknown RB1 V654L lies within domain B of the Rb1 protein (UniProt.org). V654L has been identified in sequencing studies (PMID: 21615945, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 V654M missense unknown RB1 V654M lies within domain B of the Rb1 protein (UniProt.org). V654M has been identified in sequencing studies (PMID: 36550020, PMID: 27283993, PMID: 26527677), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 W563L missense unknown RB1 W563L lies within domain A of the Rb1 protein (UniProt.org). W563L has been identified in sequencing studies (PMID: 10882758, PMID: 35461050), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Y606C missense unknown RB1 Y606C lies within the spacer region of the Rb1 protein (UniProt.org). Y606C has been identified in the scientific literature (PMID: 25057855), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Y659F missense unknown RB1 Y659F lies within domain B of the Rb1 protein (UniProt.org). Y659F has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Y728C missense unknown RB1 Y728C lies within domain B of the Rb1 protein (UniProt.org). Y728C has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RB1 Y756C missense unknown RB1 Y756C lies within domain B of the Rb1 protein (UniProt.org). Y756C has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2025).
RET A274G missense unknown RET A274G lies within the extracellular domain of the Ret protein (UniProt.org). A274G has been identified in sequencing studies (PMID: 34653365), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET A756D missense unknown RET A756D lies within the protein kinase domain of the Ret protein (UniProt.org). A756D has not been characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET A756V missense loss of function - predicted RET A756V lies within the protein kinase domain of the Ret protein (UniProt.org). A756V results in reduced phosphorylation of Ret and Erk in cell culture (PMID: 26395553), and therefore, is predicted to lead to a loss of Ret protein function.
RET A807V missense unknown RET A807V lies within the protein kinase domain of the Ret protein (UniProt.org). A807V has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
RET A919V missense unknown RET A919V lies within the protein kinase domain of the Ret protein (UniProt.org). A919V is predicted to result in decreased Ret protein stability in computational models (PMID: 16928683, PMID: 19186126), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET C609F missense unknown RET C609F lies within the extracellular domain of the Ret protein (UniProt.org). C609F has been identified in the scientific literature (PMID: 9068588, PMID: 24699901, PMID: 38339246), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C611F missense unknown RET C611F lies within the extracellular domain of the Ret protein (UniProt.org). C611F has been identified in the scientific literature (PMID: 11331212, PMID: 38339246, PMID: 33827484), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C611G missense unknown RET C611G lies within the extracellular domain of the Ret protein (UniProt.org). C611G has been identified in the scientific literature (PMID: 9677065, PMID: 30763276, PMID: 21054478), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C611R missense unknown RET C611R lies within the extracellular domain of the Ret protein (UniProt.org). C611R has been identified in the scientific literature (PMID: 39489747, PMID: 30446652, PMID: 25163725), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C611S missense unknown RET C611S lies within the extracellular domain of the Ret protein (UniProt.org). C611S has been identified in the scientific literature (PMID: 12734540, PMID: 25242331, PMID: 38441533), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C618T missense unknown RET C618T lies within the extracellular domain of the Ret protein (UniProt.org). C618T has been identified in sequencing studies (PMID: 15129804), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C618W missense unknown RET C618W lies within the extracellular domain of the Ret protein (UniProt.org). C618W has been identified in sequencing studies (PMID: 17384210, PMID: 14718397, PMID: 28181547), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET C620F missense unknown RET C620F lies within the extracellular domain of the Ret protein (UniProt.org). C620F has been identified in the scientific literature (PMID: 38339246, PMID: 29515777, PMID: 25694125), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C620G missense unknown RET C620G lies within the extracellular domain of the Ret protein (UniProt.org). C620G has been identified in the scientific literature (PMID: 9223675, PMID: 30763276, PMID: 22584707), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C620W missense unknown RET C620W lies within the extracellular domain of the Ret protein (UniProt.org). C620W has been identified in the scientific literature (PMID: 9068588, PMID: 25163725, PMID: 35470851), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET C630G missense unknown RET C630G lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630G has been identified in the scientific literature (PMID: 32031055, PMID: 35470851), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET C630S missense unknown RET C630S lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C630S has been identified in the scientific literature (PMID: 28676824, PMID: 15523405, PMID: 35574005), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET D378_G385delinsE indel unknown RET D378_G385delinsE results in a deletion of eight amino acids within the extracellular domain of the Ret protein from amino acid 378 to 385, combined with the insertion of a glutamic acid (E) at the same site (UniProt.org). D378_G385delinsE has been identified in the scientific literature (PMID: 32923911), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET D631_L633delinsE indel unknown RET D631_L633delinsE results in a deletion of three amino acids in the extracellular domain of the Ret protein from amino acids 631 to 633, combined with the insertion of a glutamic acid (E) at the same site (UniProt.org). D631_L633delinsE has been identified in the scientific literature (PMID: 27082517), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET D631_L633delinsS indel unknown RET D631_L633delinsS results in a deletion of three amino acids in the extracellular domain of the Ret protein from amino acids 631 to 633, combined with the insertion of one serine (S) at the same site (UniProt.org). D631_L633delinsS has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET D631_L633delinsV indel unknown RET D631_L633delinsV results in a deletion of three amino acids in the extracellular domain of the Ret protein from amino acids 631 to 633, combined with the insertion of one valine (V) at the same site (UniProt.org). D631_L633delinsV has been identified in the sequencing studies (PMID: 32846061), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET D631_R635delinsG indel unknown RET D631_R635delinsG results in a deletion of five amino acids in the extracellular domain of the Ret protein from amino acids 631 to 635, combined with the insertion of a glycine (G) at the same site (UniProt.org). D631_R635delinsG has been identified in the scientific literature (PMID: 29657135), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET D631G missense unknown RET D631G lies within the extracellular domain of the Ret protein (UniProt.org). D631G does not result in covalent Ret dimerization and demonstrates no transforming activity in cell culture (PMID: 10049754), but has not been fully biochemically characterized and therefore, its effect on Ret protein function is unknown.
RET D898V missense unknown RET D898V lies within the protein kinase domain of the Ret protein (UniProt.org). D898V has been identified in the scientific literature (PMID: 23526464), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET D925H missense unknown RET D925H lies within the protein kinase domain of the Ret protein (UniProt.org). D925H has been identified in sequencing studies (PMID: 8825918, PMID: 30446652), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET E1006D missense unknown RET E1006D lies within the protein kinase domain of the Ret protein (UniProt.org). E1006D has been identified in sequencing studies (PMID: 34653365), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET E136K missense unknown RET E136K lies within the extracellular domain of the Ret protein (UniProt.org). E136K has been identified in sequencing studies (PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2025).
RET E232K missense unknown RET E232K lies within the cadherin domain of the Ret protein (UniProt.org). E232K has been identified in sequencing studies (PMID: 30446652), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET E623_L633del deletion unknown RET E623_L633del results in the deletion of 11 amino acids in the extracellular domain of the Ret protein from amino acids 623 to 633 (UniProt.org). E623_L633del has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET E623G missense unknown RET E623G lies within the extracellular domain of the Ret protein (UniProt.org). E623G has been identified in sequencing studies (PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET E623K missense unknown RET E623K lies within the extracellular domain of the Ret protein (UniProt.org). E623K has been identified in the scientific literature (PMID: 16849421, PMID: 15858153), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET E62del deletion unknown RET E62del results in the deletion of an amino acid in the extracellular domain of the Ret protein at amino acid 62 (UniProt.org). E62del (reported as E61del) has been identified in sequencing studies (PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET E632_A639delinsHR indel unknown RET E632_A639delinsHR results in a deletion of eight amino acids in the extracellular domain of the Ret protein from amino acids 632 to 639, combined with the insertion of a histidine (H) and an arginine (R) at the same site (UniProt.org). E632_A639delinsHR has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET E632_C634del deletion unknown RET E632_C634del results in the deletion of three amino acids in the extracellular domain of the Ret protein from amino acids 632 to 634 (UniProt.org). E632_C634del has been identified in the scientific literature (PMID: 35616103, PMID: 31605946), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET E632_T636delinsSS indel unknown RET E632_T636delinsSS results in the deletion of five amino acids of the Ret protein from amino acids 632 to 636, combined with the insertion of two serines (S) at the same site (UniProt.org). E632_T636delinsSS results in increased transformation compared to wild-type in cell culture (PMID: 39095584), and therefore, is predicted to lead to gain of Ret protein function.
RET E632K missense unknown RET E632K lies within the extracellular domain of the Ret protein (UniProt.org). E632K has been identified in sequencing studies (PMID: 30115035, PMID: 27756406, PMID: 33257508), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET E732K missense unknown RET E732K lies within the protein kinase domain of the Ret protein (UniProt.org). E732K has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026). Y
RET E768Q missense unknown RET E768Q lies within the protein kinase domain of the Ret protein (UniProt.org). E768Q has been identified in the scientific literature (PMID: 37743366, PMID: 38754058), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET E884K missense unknown RET E884K lies within the protein kinase domain of the Ret protein (UniProt.org). E884K has been identified in the scientific literature (PMID: 10622534, PMID: 19029224, PMID: 28351340), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET F185L missense unknown RET F185L lies within the Cadherin domain of the Ret protein (UniProt.org). F185L has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET F329L missense unknown RET F329L lies within the extracellular domain of the Ret protein (UniProt.org). F329L has not been characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET F612_C620del deletion unknown RET F612_C620del results in the deletion of nine amino acids in the extracellular domain of the Ret protein from amino acids 612 to 620 (UniProt.org). F612_C620del has been identified in sequencing studies (PMID: 25157968, PMID: 9587071), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET F998V missense unknown RET F998V lies within the protein kinase domain of the Ret protein (UniProt.org). F998V has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
RET G10C missense unknown RET G10C lies within the signal peptide region of the Ret protein (UniProt.org). G10C has been identified in the scientific literature (PMID: 32094155), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET G10R missense unknown RET G10R lies within the signal peptide region of the Ret protein (UniProt.org). G10R has been identified in the scientific literature (PMID: 32094155), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET G10S missense unknown RET G10S lies within the signal peptide region of the Ret protein (UniProt.org). G10S has been identified in the scientific literature (PMID: 32094155), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET G446R missense unknown RET G446R lies within the extracellular domain of the Ret protein (UniProt.org). G446R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET G592_G607del deletion unknown RET G592_G607del results in the deletion of 16 amino acids in the extracellular domain of the Ret protein from amino acids 592 to 607 (UniProt.org). G592_G607del has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET G601W missense unknown RET G601W lies within the extracellular domain of the Ret protein (UniProt.org). G601W has been identified in sequencing studies (PMID: 22980975, PMID: 38896179, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET G736A missense unknown RET G736A lies within the protein kinase domain of the Ret protein (UniProt.org). G736A has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET G736R missense unknown RET G736R lies within the protein kinase domain of the Ret protein (UniProt.org). G736R has been identified in the scientific literature (PMID: 26076779, PMID: 33222100), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET G810A missense unknown RET G810A lies within the protein kinase domain of the Ret protein (UniProt.org). G810A has been demonstrated to confer drug resistance in culture (PMID: 27496134, PMID: 37070927), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026). Y
RET G810C missense unknown RET G810C lies within the protein kinase domain of the Ret protein (UniProt.org). G810C is associated with RET inhibitor resistance in the context of RET fusions (PMID: 31988000, PMID: 33161056), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026). Y
RET G810D missense unknown RET G810D lies within the protein kinase domain of the Ret protein (UniProt.org). G810D has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 37070927), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026). Y
RET G810R missense unknown RET G810R lies within the protein kinase domain of the Ret protein (UniProt.org). G810R is associated with RET inhibitor resistance in the context of RET fusions (PMID: 31988000, PMID: 33161056, PMID: 34373541), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2025). Y
RET G810S missense unknown RET G810S lies within the protein kinase domain of the Ret protein (UniProt.org). G810S has been demonstrated to confer resistance to tyrosine kinase inhibitors in the context of RET fusions (PMID: 33161056 , PMID: 31988000, PMID: 36996322), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026). Y
RET G810V missense unknown RET G810V lies within the protein kinase domain of the Ret protein (UniProt.org). G810V has been identified in the scientific literature (PMID: 37070927, PMID: 31988000), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET I590_G607del deletion unknown RET I590_G607del results in the deletion of 18 amino acids in the extracellular domain of the Ret protein from amino acids 590 to 607 (UniProt.org). I590_G607del has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET I788N missense unknown RET I788N lies within the protein kinase domain of the Ret protein (UniProt.org). I788N has been associated with drug resistance in the context of RET fusions (PMID: 28615362, PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
RET K662M missense unknown RET K662M lies within the cytoplasmic domain of the Ret protein (UniProt.org). K662M has been identified in sequencing studies (PMID: 34741450, PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET K780T missense unknown RET K780T lies within the protein kinase domain of the Ret protein (UniProt.org). K780T has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET L1016S missense unknown RET L1016S lies within the protein kinase domain of the Ret protein (UniProt.org). L1016S has been identified in the scientific literature (PMID: 36053791), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L517V missense unknown RET L517V lies within the extracellular domain of the Ret protein (UniProt.org). L517V has been identified in sequencing studies (PMID: 27153395), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L629_D631delinsH indel unknown RET L629_D631delinsH results in a deletion of three amino acids in the extracellular domain of the Ret protein from amino acids 629 to 631, combined with the insertion of a histidine (H) at the same site (UniProt.org). L629_D631delinsH has been identified in the scientific literature (PMID: 35616103, PMID: 31605946), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L629_L633del deletion unknown RET L629_L633del results in the deletion of five amino acids in the extracellular domain of the Ret protein from amino acids 629 to 633 (UniProt.org). L629_L633del has been identified in the scientific literature (PMID: 28676824), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L629P missense unknown RET L629P lies within the extracellular domain of the Ret protein (UniProt.org). L629P has been identified in the scientific literature (PMID: 29657135), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L633_A639del deletion unknown RET L633_A639del results in the deletion of seven amino acids in the extracellular domain of the Ret protein from amino acids 633 to 639 (UniProt.org). E633_A639del has been identified in the scientific literature (PMID: 28209747), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L633_C634dup duplication unknown RET L633_C634dup indicates the insertion of 2 duplicate amino acids, leucine (L)-633 through cysteine(C)-634, in the extracellular domain of the Ret protein (UniProt.org). L633_C634dup has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2026).
RET L633V missense unknown RET L633V lies within the extracellular domain of the Ret protein (UniProt.org). L633V has been identified in the scientific literature (PMID: 30446652, PMID: 38378752), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET L730I missense unknown RET L730I lies within the protein kinase domain of the Ret protein (UniProt.org). L730I has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090, PMID: 34099825), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026). Y
RET L730Q missense unknown RET L730Q lies within the protein kinase domain of the Ret protein (UniProt.org). L730Q has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L730R missense unknown RET L730R lies within the protein kinase domain of the Ret protein (UniProt.org). L730R has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L730V missense unknown RET L730V lies within the protein kinase domain of the Ret protein (UniProt.org). L730V has been demonstrated to confer resistance to tyrosine kinase inhibitors in the context of KIF5B-RET in culture (PMID: 29908090, PMID: 34099825), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
RET L760Q missense unknown RET L760Q lies within the protein kinase domain of the Ret protein (UniProt.org). L760Q has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L772M missense unknown RET L772M lies within the protein kinase domain of the Ret protein (UniProt.org). L772M has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L870F missense unknown RET L870F lies within the protein kinase domain of the Ret protein (UniProt.org). L870F has been identified in sequencing studies (PMID: 35304457), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L923H missense unknown RET L923H lies within the protein kinase domain of the Ret protein (UniProt.org). L923H has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L923I missense unknown RET L923I lies within the protein kinase domain of the Ret protein (UniProt.org). L923I has been identified in sequencing studies (PMID: 25148578, PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET L960R missense unknown RET L960R lies within the protein kinase domain of the Ret protein (UniProt.org). L960R has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET M1008I missense unknown RET M1008I lies within the protein kinase domain of the Ret protein (UniProt.org). M1008I has been identified in sequencing studies (PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET M1009T missense unknown RET M1009T lies within the protein kinase domain of the Ret protein (UniProt.org). M1009T has been identified in sequencing studies (PMID: 27149458, PMID: 24429398, PMID: 35181378), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET M1064T missense unknown RET M1064T lies within the cytoplasmic domain of the Ret protein (UniProt.org). M1064T does not affect the function of a concurrent activating RET mutation (C634R) in culture (PMID: 9502784), but has not been individually characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET M759I missense unknown RET M759I lies within the protein kinase domain of the Ret protein (UniProt.org). M759I has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET N359T missense unknown RET N359T lies within the extracellular domain of the Ret protein (UniProt.org). N359T has been identified in sequencing studies (PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET P1070S missense unknown RET P1070S lies within the cytoplasmic domain of the Ret protein (UniProt.org). P1070S has been identified in sequencing studies (PMID: 26832770), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET P273L missense unknown RET P273L lies within the extracellular domain of the Ret protein (UniProt.org). P273L has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET P622H missense unknown RET P622H lies within the extracellular domain of the Ret protein (UniProt.org). P622H has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET P695S missense unknown RET P695S lies within the cytoplasmic domain of the Ret protein (UniProt.org). P695S has been identified in sequencing studies (PMID: 30664990, PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET P841L missense unknown RET P841L lies within the protein kinase domain of the Ret protein (UniProt.org). P841L has been identified in sequencing studies (PMID: 27149842, PMID: 22895193, PMID: 24134185), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET Q781R missense unknown RET Q781R lies within the protein kinase domain of the Ret protein (UniProt.org). Q781R has been identified in the scientific literature (PMID: 21422198, PMID: 23240926), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET Q986* nonsense unknown RET Q986* results in a premature truncation of the Ret protein at amino acid 986 of 1114 (UniProt.org). Q986* has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R1013del deletion unknown RET R1013del results in the deletion of an amino acid in the protein kinase domain of the Ret protein at amino acid 1013 (UniProt.org). R1013del has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R114H missense unknown RET R114H lies within the extracellular domain of the Ret protein (UniProt.org). R114H has been identified in the scientific literature (PMID: 33827484, PMID: 34670378), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET R133C missense unknown RET R133C lies within the extracellular domain of the Ret protein (UniProt.org). R133C has been identified in sequencing studies (PMID: 32284345, PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET R177W missense unknown RET R177W lies within the cadherin domain of the Ret protein (UniProt.org). R177W has been identified in sequencing studies (PMID: 34741450, PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET R417H missense unknown RET R417H lies within the extracellular domain of the Ret protein (UniProt.org). R417H has been identified in sequencing studies (PMID: 27149842, PMID: 37031196), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R418* nonsense loss of function - predicted RET R418* results in a premature truncation of the Ret protein at amino acid 418 of 1114 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R418* is predicted to lead to a loss of Ret protein function.
RET R57W missense unknown RET R57W lies within the extracellular domain of the Ret protein (UniProt.org). R57W has not been characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R600Q missense unknown RET R600Q lies within the extracellular domain of the Ret protein (UniProt.org). R600Q has been identified in the scientific literature (PMID: 10612852, PMID: 22722839, PMID: 33827484), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R67H missense unknown RET R67H lies within the extracellular domain of the Ret protein (UniProt.org). R67H has been identified in the scientific literature (PMID: 21655256, PMID: 33827484), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R721W missense unknown RET R721W lies within the cytoplasmic domain of the Ret protein (UniProt.org). R721W has been identified in sequencing studies (PMID: 32284345, PMID: 32478891, PMID: 35273153), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET R770Q missense unknown RET R770Q lies within the protein kinase domain of the Ret protein (UniProt.org). R770Q has been identified in the scientific literature (PMID: 20013610, PMID: 28196074, PMID: 25425582), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R77H missense unknown RET R77H lies within the extracellular domain of the Ret protein (UniProt.org). R77H has been identified in sequencing studies (PMID: 27626691, PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R77L missense unknown RET R77L lies within the extracellular domain of the Ret protein (UniProt.org). R77L has been identified in the scientific literature (PMID: 25530832, PMID: 29681454, PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2026).
RET R873W missense unknown RET R873W lies within the protein kinase domain of the Ret protein (UniProt.org). R873W has been identified in sequencing studies (PMID: 27998968, PMID: 22622578, PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R912L missense unknown RET R912L lies within the protein kinase domain of the Ret protein (UniProt.org). R912L has been identified in sequencing studies (PMID: 38896179, PMID: 29082853), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET R959W missense unknown RET R959W lies within the protein kinase domain of the Ret protein (UniProt.org). R959W has been identified in sequencing studies (PMID: 24728327, PMID: 38538548), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET R969Q missense unknown RET R969Q lies within the protein kinase domain of the Ret protein (UniProt.org). R969Q has been identified in sequencing studies (PMID: 27149842, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET S462L missense unknown RET S462L lies within the extracellular domain of the Ret protein (UniProt.org). S462L has been identified in sequencing studies (PMID: 30446652), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET S649_V650insLLLL insertion unknown RET S649_V650insLLLL results in the insertion of four amino acids in the helical domain of the Ret protein between amino acids 649 and 650 (UniProt.org). S649_V650insLLLL has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET S891L missense unknown RET S891L lies within the protein kinase domain of the Ret protein (UniProt.org). S891L has been identified in sequencing studies (PMID: 29615459, PMID: 26286987, PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET S904C missense unknown RET S904C lies within the protein kinase domain of the Ret protein (UniProt.org). S904C has been identified in the scientific literature (PMID: 11788682, PMID: 19169500, PMID: 17047083), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET S936F missense unknown RET S936F lies within the protein kinase domain of the Ret protein (UniProt.org). S936F has been identified in sequencing studies (PMID: 29033130), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET S977R missense unknown RET S977R lies within the protein kinase domain of the Ret protein (UniProt.org). S977R has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET T1038A missense unknown RET T1038A lies within the cytoplasmic domain of the Ret protein (UniProt.org). T1038A has been identified in the scientific literature (PMID: 29263839, PMID: 29642553), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET T278N missense unknown RET T278N lies within the extracellular domain of the Ret protein (UniProt.org). T278N has been identified in sequencing studies (PMID: 33827484, PMID: 33219105), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET T278S missense unknown RET T278S lies within the extracellular domain of the Ret protein (UniProt.org). T278S has been identified in sequencing studies (PMID: 34653365), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET T451M missense unknown RET T451M lies within the extracellular domain of the Ret protein (UniProt.org). T451M has been identified in sequencing studies (PMID: 25425582, PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET T742M missense unknown RET T742M lies within the protein kinase domain of the Ret protein (UniProt.org). T742M has been identified in the scientific literature (PMID: 31712133, PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V125F missense unknown RET V125F lies within the extracellular domain of the Ret protein (UniProt.org). V125F has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V253E missense unknown RET V253E lies within the cadherin domain of the Ret protein (UniProt.org). V253E has been identified in sequencing studies (PMID: 28606923), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V351I missense unknown RET V351I lies within the extracellular domain of the Ret protein (UniProt.org). V351I has been identified in sequencing studies (PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET V485L missense unknown RET V485L lies within the extracellular domain of the Ret protein (UniProt.org). V485L has been identified in sequencing studies (PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET V591_G607del deletion unknown RET V591_G607del results in the deletion of 17 amino acids in the extracellular domain of the Ret protein from amino acids 591 to 607 (UniProt.org). V591_G607del has been identified in the scientific literature (PMID: 36053791), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V637M missense unknown RET V637M lies within the transmembrane domain of the Ret protein (UniProt.org). V637M has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V637R missense unknown RET V637R lies within the transmembrane domain of the Ret protein (UniProt.org). V637R has been identified in the scientific literature (PMID: 29657135), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V642F missense unknown RET V642F lies within the transmembrane domain of the Ret protein (UniProt.org). V642F has been identified in sequencing studies (PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET V706M missense unknown RET V706M lies within the cytoplasmic domain of the Ret protein (UniProt.org). V706M has been identified in sequencing studies (PMID: 27683183, PMID: 30446652, PMID: 34741450), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025).
RET V738A missense unknown RET V738A lies within the protein kinase domain of the Ret protein (UniProt.org). V738A has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090, PMID: 33161056), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
RET V804E missense unknown RET V804E lies within the protein kinase domain of the Ret protein (UniProt.org). V804E has been demonstrated to confer drug resistance in the context of a RET fusion in culture (PMID: 29657135), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
RET V871I missense unknown RET V871I lies within the protein kinase domain of the Ret protein (UniProt.org). V871I has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026). Y
RET V899_E902del deletion unknown RET V899_E902del results in the deletion of four amino acids in the protein kinase domain of the Ret protein from amino acids 899 to 902 (UniProt.org). V899_E902del has been identified in the scientific literature (PMID: 35616103, PMID: 35470851), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET V915_K916insVHR insertion unknown RET V915_K916insVHR results in the insertion of three amino acids in the protein kinase domain of the Ret protein between amino acids 915 and 916 (UniProt.org). V915_K916insVHR has not been characterized in the scientific literature and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2026).
RET Y806E missense unknown RET Y806E lies within the protein kinase domain of the Ret protein (UniProt.org). Y806E has been demonstrated to confer secondary drug resistance in the context of other RET activating mutations (PMID: 19029224), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026). Y
RET Y806F missense unknown RET Y806F lies within the protein kinase domain of the Ret protein (UniProt.org). Y806F results in reduced autophosphorylation and transforming activity in the context of a constitutively active form of RET (PMID: 14711813), but has not been individually characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2026).
RET Y806N missense unknown RET Y806N lies within the protein kinase domain of the Ret protein (UniProt.org). Y806N has been demonstrated to confer drug resistance in the context of KIF5B-RET in culture (PMID: 29908090), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Nov 2025). Y
ROS1 A1186D missense unknown ROS1 A1186D lies within the extracellular domain of the Ros1 protein (UniProt.org). A1186D has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 A1924_I1934del deletion unknown ROS1 A1924_I1934del results in the deletion of 11 amino acids in the cytoplasmic domain of the Ros1 protein from amino acids 1924 to 1934 (UniProt.org). A1924_I1934del has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 A1964T missense unknown ROS1 A1964T lies within the protein kinase domain of the Ros1 protein (UniProt.org). A1964T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 A1998G missense unknown ROS1 A1998G lies within the protein kinase domain of the Ros1 protein (UniProt.org). A1998G has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 A2081T missense unknown ROS1 A2081T lies within the protein kinase domain of the Ros1 protein (UniProt.org). A2081T has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 A87T missense unknown ROS1 A87T lies within the extracellular domain of the Ros1 protein (UniProt.org). A87T has been identified in sequencing studies (PMID: 29338072, PMID: 29641532), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 A887V missense unknown ROS1 A887V lies within the extracellular domain of the Ros1 protein (UniProt.org). A887V has been identified in the scientific literature (PMID: 29642553), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 C2060G missense unknown ROS1 C2060G lies within the protein kinase domain of the Ros1 protein (UniProt.org). C2060G has been demonstrated to confer resistance to Ros1 tyrosine kinase inhibitors in the context of Ros1 fusion in culture (PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 C72R missense unknown ROS1 C72R lies within the extracellular domain of the Ros1 protein (UniProt.org). C72R has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 D1192V missense unknown ROS1 D1192V lies within the extracellular domain of the Ros1 protein (UniProt.org). D1192V has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 D1776H missense unknown ROS1 D1776H lies within fibronectin type-III domain 9 of the Ros1 protein (UniProt.org). D1776H has been identified in sequencing studies (PMID: 25589003, PMID: 26420498, PMID: 32077636), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 D2033N missense unknown ROS1 D2033N lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2033N has been demonstrated to confer resistance to Ros1 tyrosine kinase inhibitors and increase cell migration and invasion in the context of Ros1 fusions in culture (PMID: 36265718, PMID: 26673800), but has not been individually characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 D2058G missense unknown ROS1 D2058G lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2058G has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 D2213N missense unknown ROS1 D2213N lies within the protein kinase domain of the Ros1 protein (UniProt.org). D2213N has been identified in sequencing studies (PMID: 27882345, PMID: 35145582, PMID: 32069381), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 D2247Y missense unknown ROS1 D2247Y lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). D2247Y has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 D780Y missense unknown ROS1 D780Y lies within the extracellular domain of the Ros1 protein (UniProt.org). D780Y has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E1902K missense unknown ROS1 E1902K lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). E1902K has been identified in the scientific literature (PMID: 29642553, PMID: 34271921), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E1935G missense unknown ROS1 E1935G lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). E1935G has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of ROS1 fusions in culture (PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 E1974K missense unknown ROS1 E1974K lies within the protein kinase domain of the Ros1 protein (UniProt.org). E1974K has been identified in the scientific literature (PMID: 26372962), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 E1990A missense unknown ROS1 E1990A lies within the protein kinase domain of the Ros1 protein (UniProt.org). E1990A has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 E1990D missense unknown ROS1 E1990D lies within the protein kinase domain of the Ros1 protein (UniProt.org). E1990D has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 E1990G missense unknown ROS1 E1990G lies within the protein kinase domain of the Ros1 protein (UniProt.org). E1990G has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25351743), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 E2020K missense unknown ROS1 E2020K lies within the protein kinase domain of the Ros1 protein (UniProt.org). E2020K has been demonstrated to enhance resistance to Ros1 tyrosine kinase inhibitors with a concurrent ROS1 G2032R in the context of a Ros1 fusion in culture (PMID: 26372962, PMID: 31395437), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 E2131D missense unknown ROS1 E2131D lies within the protein kinase domain of the Ros1 protein (UniProt.org). E2131D has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E2265D missense unknown ROS1 E2265D lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). E2265D has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E2308* nonsense unknown ROS1 E2308* results in a premature truncation of the Ros1 protein at amino acid 2308 of 2347 (UniProt.org). E2308* has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E2308K missense unknown ROS1 E2308K lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). E2308K has been identified in sequencing studies (PMID: 25759019, PMID: 26950094, PMID: 35130390), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E341D missense unknown ROS1 E341D lies within the extracellular domain of the Ros1 protein (UniProt.org). E341D has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 E919K missense unknown ROS1 E919K lies within the extracellular domain of the Ros1 protein (UniProt.org). E919K has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 F2004C missense unknown ROS1 F2004C lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2004C has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 26372962, PMID: 39117775), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 F2004I missense unknown ROS1 F2004I lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2004I has been identified in the scientific literature (PMID: 34907086, PMID: 38197815), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 F2004L missense unknown ROS1 F2004L lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2004L has been demonstrated to confer resistance to ROS1 inhibitors in the context of ROS1 fusions in culture (PMID: 33558279), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 F2004V missense unknown ROS1 F2004V lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2004V has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion (PMID: 28717217, PMID: 32914039), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 F2075C missense unknown ROS1 F2075C lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2075C has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 28717217), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 F2075V missense unknown ROS1 F2075V lies within the protein kinase domain of the Ros1 protein (UniProt.org). F2075V has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 26372962), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 F250L missense unknown ROS1 F250L lies within fibronectin type-III domain 2 of the Ros1 protein (UniProt.org). F250L has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 F383S missense unknown ROS1 F383S lies within the extracellular domain of the Ros1 protein (UniProt.org). F383S has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 F923I missense unknown ROS1 F923I lies within the extracellular domain of the Ros1 protein (UniProt.org). F923I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 G1027D missense unknown ROS1 G1027D lies within fibronectin type-III domain 4 of the Ros1 protein (UniProt.org). G1027D has been identified in sequencing studies (PMID: 32504289, PMID: 36713525, PMID: 31133068), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 G1556R missense unknown ROS1 G1556R lies within fibronectin type-III domain 6 of the Ros1 protein (UniProt.org). G1556R has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 G1915R missense unknown ROS1 G1915R lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). G1915R has been identified in the scientific literature (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025).
ROS1 G1954R missense unknown ROS1 G1954R lies within the protein kinase domain of the Ros1 protein (UniProt.org). G1954R has been identified in sequencing studies (PMID: 26214590), but had not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 G1957A missense unknown ROS1 G1957A lies within the protein kinase domain of the Ros1 protein (UniProt.org). G1957A has been associated with resistance to Ros1 tyrosine kinase inhibitors in the context of a ROS1 fusion in patients (PMID: 38416709), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 G1971E missense unknown ROS1 G1971E lies within the protein kinase domain of the Ros1 protein (UniProt.org). G1971E has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 G2032K missense unknown ROS1 G2032K lies within the protein kinase domain of the Ros1 protein (UniProt.org). G2032K has been associated with secondary drug resistance (PMID: 32208297), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026). Y
ROS1 G2066C missense unknown ROS1 G2066C lies within the protein kinase domain of the Ros1 protein (UniProt.org). G2066C has been identified in the scientific literature (PMID: 29312610), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 G2101A missense unknown ROS1 G2101A lies within the protein kinase domain of the Ros1 protein (UniProt.org). G2101A has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25688157), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 G2148V missense unknown ROS1 G2148V lies within the protein kinase domain of the Ros1 protein (UniProt.org). G2148V has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 G365A missense unknown ROS1 G365A lies within the extracellular domain of the Ros1 protein (UniProt.org). G365A has been identified in sequencing studies (PMID: 28524162, PMID: 35205822, PMID: 29641532), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 G666S missense unknown ROS1 G666S lies within fibronectin type-III domain 3 of the Ros1 protein (UniProt.org). G666S has been identified in sequencing studies (PMID: 25801821), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 I537M missense unknown ROS1 I537M lies within the extracellular domain of the Ros1 protein (UniProt.org). I537M has been identified in sequencing studies (PMID: 31346352, PMID: 18056464), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025).
ROS1 K1163N missense unknown ROS1 K1163N lies within the extracellular domain of the Ros1 protein (UniProt.org). K1163N has been identified in sequencing studies (PMID: 25801821, PMID: 31672974), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 K1552T missense unknown ROS1 K1552T lies within fibronectin type-III domain 6 of the Ros1 protein (UniProt.org). K1552T has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 K1887Q missense unknown ROS1 K1887Q lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). K1887Q has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 K1991N missense unknown ROS1 K1991N lies within the protein kinase domain of the Ros1 protein (UniProt.org). K1991N has been associated with resistance to a Ros1 tyrosine kinase inhibitor in the context of TFG-ROS1 (PMID: 41179684), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 K2003I missense unknown ROS1 K2003I lies within the protein kinase domain of the Ros1 protein (UniProt.org). K2003I has been identified in the scientific literature (PMID: 33489820, PMID: 25351743), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 K2099N missense unknown ROS1 K2099N lies within the protein kinase domain of the Ros1 protein (UniProt.org). K2099N has been identified in sequencing studies (PMID: 31200359), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 K2228Q missense unknown ROS1 K2228Q lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). K2228Q has been identified in the scientific literature (PMID: 27882345, PMID: 25589003, PMID: 36422072), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 L1947R missense unknown ROS1 L1947R lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1947R has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 L1950F missense unknown ROS1 L1950F lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1950F has been identified in the scientific literature (PMID: 34320493), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 L1951R missense unknown ROS1 L1951R lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1951R has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25351743), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 L1982F missense unknown ROS1 L1982F lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1982F has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25351743, PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 L1982V missense unknown ROS1 L1982V lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1982V has been associated with resistance to Ros1 tyrosine kinase inhibitors in the context of a ROS1 fusion in patients (PMID: 38416709), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 L1982W missense unknown ROS1 L1982W lies within the protein kinase domain of the Ros1 protein (UniProt.org). L1982W has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 L2000R missense unknown ROS1 L2000R lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2000R has been identified in the scientific literature (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 L2000V missense unknown ROS1 L2000V lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2000V has been demonstrated to confer resistance to ROS1 inhibitors in culture (PMID: 33685866), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026). Y
ROS1 L2010M missense unknown ROS1 L2010M lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2010M has been associated with resistance to Ros1 tyrosine kinase inhibitors in the context of a ROS1 fusion in patients (PMID: 38416709), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 L2028M missense unknown ROS1 L2028M lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2028M has not been characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 L2086F missense unknown ROS1 L2086F lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2086F confers resistance to ROS1 inhibitors in the context of ROS1 fusions (PMID: 32591465, PMID: 33685866, PMID: 39117775), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 L2086I missense unknown ROS1 L2086I lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2086I has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 L2155S missense unknown ROS1 L2155S lies within the protein kinase domain of the Ros1 protein (UniProt.org). L2155S has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25688157), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 L567V missense unknown ROS1 L567V lies within fibronectin type-III domain 3 of the Ros1 protein (UniProt.org). L567V has been identified in sequencing studies (PMID: 27284491, PMID: 36422072), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 M1805V missense unknown ROS1 M1805V lies within fibronectin type-III domain 9 of the Ros1 protein (UniProt.org). M1805V has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 M2073T missense unknown ROS1 M2073T lies within the protein kinase domain of the Ros1 protein (UniProt.org). M2073T has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 M2128T missense unknown ROS1 M2128T lies within the protein kinase domain of the Ros1 protein (UniProt.org). M2128T has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 M2128V missense unknown ROS1 M2128V lies within the protein kinase domain of the Ros1 protein (UniProt.org). M2128V has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 25351743), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 M2134I missense unknown ROS1 M2134I lies within the protein kinase domain of the Ros1 protein (UniProt.org). M2134I has been identified in the scientific literature (PMID: 26372962, PMID: 32760015), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 N1534K missense unknown ROS1 N1534K lies within fibronectin type-III domain 6 of the Ros1 protein (UniProt.org). N1534K has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 N1800T missense unknown ROS1 N1800T lies within fibronectin type-III domain 9 of the Ros1 protein (UniProt.org). N1800T has been identified in sequencing studies (PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 N2240K missense unknown ROS1 N2240K lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). N2240K has been identified in sequencing studies (PMID: 33020649, PMID: 36613564, PMID: 36352227), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 N790S missense unknown ROS1 N790S lies within the extracellular domain of the Ros1 protein (UniProt.org). N790S has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P1020H missense unknown ROS1 P1020H lies within fibronectin type-III domain 4 of the Ros1 protein (UniProt.org). P1020H has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P1020S missense unknown ROS1 P1020S lies within fibronectin type-III domain 4 of the Ros1 protein (UniProt.org). P1020S has been identified in sequencing studies (PMID: 29141224), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P1440L missense unknown ROS1 P1440L lies within the extracellular domain of the Ros1 protein (UniProt.org). P1440L has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P1440S missense unknown ROS1 P1440S lies within the extracellular domain of the Ros1 protein (UniProt.org). P1440S has not identified in sequencing studies (PMID: 39001563), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P151S missense unknown ROS1 P151S lies within fibronectin type-III domain 1 of the Ros1 protein (UniProt.org). P151S has been identified in sequencing studies (PMID: 27573823, PMID: 26416732), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 P1539S missense unknown ROS1 P1539S lies within fibronectin type-III domain 6 of the Ros1 protein (UniProt.org). P1539S has been identified in sequencing studies (PMID: 28153863), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P1721T missense unknown ROS1 P1721T lies within fibronectin type-III domain 8 of the Ros1 protein (UniProt.org). P1721T has been identified in sequencing studies (PMID: 33283138), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 P2130T missense unknown ROS1 P2130T lies within the protein kinase domain of the Ros1 protein (UniProt.org). P2130T has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 P671Q missense unknown ROS1 P671Q lies within fibronectin type-III domain 3 of the Ros1 protein (UniProt.org). P671Q has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 Q1797H missense unknown ROS1 Q1797H lies within fibronectin type-III domain 9 of the Ros1 protein (UniProt.org). Q1797H has been identified in sequencing studies (PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 Q1889P missense unknown ROS1 Q1889P lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). Q1889P has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 Q2012K missense unknown ROS1 Q2012K lies within the protein kinase domain of the Ros1 protein (UniProt.org). Q2012K has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 Q2022P missense unknown ROS1 Q2022P lies within the protein kinase domain of the Ros1 protein (UniProt.org). Q2022P has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 Q617H missense unknown ROS1 Q617H lies within fibronectin-type III domain 3 of the Ros1 protein (UniProt.org). Q617H has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R118Q missense unknown ROS1 R118Q lies within fibronectin-type III domain 1 of the Ros1 protein (UniProt.org). R118Q has been identified in sequencing studies (PMID: 27683039, PMID: 33692861, PMID: 36072793), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 R167Q missense unknown ROS1 R167Q lies within fibronectin type-III domain 1 of the Ros1 protein (UniProt.org). R167Q has been identified in the scientific literature (PMID: 28690523, PMID: 31346352, PMID: 36422072), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2078W missense unknown ROS1 R2078W lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2078W has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2083G missense unknown ROS1 R2083G lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2083G has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2096L missense unknown ROS1 R2096L lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2096L has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2096Q missense unknown ROS1 R2096Q lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2096Q has not been characterized in the scientific literature and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2096W missense unknown ROS1 R2096W lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2096W has been identified in sequencing studies (PMID: 24413735, PMID: 32699558, PMID: 39052387), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2116K missense unknown ROS1 R2116K lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2116K has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R2205I missense unknown ROS1 R2205I lies within the protein kinase domain of the Ros1 protein (UniProt.org). R2205I has been identified in sequencing studies (PMID: 31093971), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R245I missense unknown ROS1 R245I lies within fibronectin type-III domain 2 of the Ros1 protein (UniProt.org). R245I has been identified in sequencing studies (PMID: 38887977, PMID: 25808843), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R304I missense unknown ROS1 R304I lies within the extracellular domain of the Ros1 protein (UniProt.org). R304I has been identified in sequencing studies (PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R360I missense unknown ROS1 R360I lies within the extracellular domain of the Ros1 protein (UniProt.org). R360I has been identified in sequencing studies (PMID: 22895193, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R380I missense unknown ROS1 R380I lies within the extracellular domain of the Ros1 protein (UniProt.org). R380I has been identified in sequencing studies (PMID: 27149842, PMID: 38887977), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 R77W missense unknown ROS1 R77W lies within the extracellular domain of the Ros1 protein (UniProt.org). R77W has been identified in sequencing studies (PMID: 35273153), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 S1109L missense unknown ROS1 S1109L lies within fibronectin type-III domain 5 of the Ros1 protein (UniProt.org). S1109L has been identified in the scientific literature (PMID: 34299796, PMID: 18056464, PMID: 36422072), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 S1577Y missense unknown ROS1 S1577Y lies within fibronectin type-III domain 7 of the Ros1 protein (UniProt.org). S1577Y has been identified in sequencing studies (PMID: 26960398, PMID: 34839264), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 S1581F missense unknown ROS1 S1581F lies within fibronectin type-III domain 7 of the Ros1 protein (UniProt.org). S1581F has been identified in the scientific literature (PMID: 27900369), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 S1986T missense unknown ROS1 S1986T lies within the protein kinase domain of the Ros1 protein (UniProt.org). S1986T has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 S1986Y missense unknown ROS1 S1986Y lies within the protein kinase domain of the Ros1 protein (UniProt.org). S1986Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ROS1 fusions (PMID: 27401242), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 S2229C missense unknown ROS1 S2229C lies within the cytoplasmic domain of the Ros1 protein (UniProt.org). S2229C has been identified in the scientific literature (PMID: 32069381), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Apr 2026).
ROS1 S32I missense unknown ROS1 S32I lies within the extracellular domain of the Ros1 protein (UniProt.org). S32I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 S653F missense unknown ROS1 S653F lies within fibronectin type-III domain 3 of the Ros1 protein (UniProt.org). S653F has been identified in the scientific literature (PMID: 29665843, PMID: 37655099), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 T145P missense unknown ROS1 T145P lies within fibronectin type-III domain 1 of the Ros1 protein (UniProt.org). T145P has been identified in the scientific literature (PMID: 29981866, PMID: 36422072, PMID: 38927739), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 T2195S missense unknown ROS1 T2195S lies within the protein kinase domain of the Ros1 protein (UniProt.org). T2195S has been identified in sequencing studies (PMID: 34676052, PMID: 35127508, PMID: 39747123), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 T804N missense unknown ROS1 T804N lies within the extracellular domain of the Ros1 protein (UniProt.org). T804N has been identified in sequencing studies (PMID: 30404791, PMID: 29665843, PMID: 29641532), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 V1729L missense unknown ROS1 V1729L lies within fibronectin type-III domain 8 of the Ros1 protein (UniProt.org). V1729L has been identified in sequencing studies (PMID: 32683791), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 V1979A missense unknown ROS1 V1979A lies within the protein kinase domain of the Ros1 protein (UniProt.org). V1979A has been identified in the scientific literature (PMID: 34907086), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 V1979E missense unknown ROS1 V1979E lies within the protein kinase domain of the Ros1 protein (UniProt.org). V1979E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025).
ROS1 V1979L missense unknown ROS1 V1979L lies within the protein kinase domain of the Ros1 protein (UniProt.org). V1979L has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 40299789), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026). Y
ROS1 V2089M missense unknown ROS1 V2089M lies within the protein kinase domain of the Ros1 protein (UniProt.org). V2089M has been identified in the scientific literature (PMID: 26372962, PMID: 38186238), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 V2098I missense unknown ROS1 V2098I lies within the protein kinase domain of the Ros1 protein (UniProt.org). V2098I has been demonstrated to confer resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion in culture (PMID: 24218589), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025). Y
ROS1 V768L missense unknown ROS1 V768L lies within the extracellular domain of the Ros1 protein (UniProt.org). V768L has been identified in sequencing studies (PMID: 30981987), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 V785M missense unknown ROS1 V785M lies within the extracellular domain of the Ros1 protein (UniProt.org). V785M has been identified in sequencing studies (PMID: 37306927), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
ROS1 Y1960H missense unknown ROS1 Y1960H lies within the protein kinase domain of the Ros1 protein (UniProt.org). Y1960H has not been characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, Oct 2025).
ROS1 Y382H missense unknown ROS1 Y382H lies within the extracellular domain of the Ros1 protein (UniProt.org). Y382H has been identified in sequencing studies (PMID: 29981866, PMID: 38159331, PMID: 29641532), but has not been biochemically characterized and therefore, its effect on Ros1 protein function is unknown (PubMed, May 2026).
TET2 A855S missense unknown TET2 A855S does not lie within any known functional domains of the Tet2 protein (UniProt.org). A855S has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1221Y missense unknown TET2 C1221Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1221Y has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1271W missense unknown TET2 C1271W lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1271W has been identified in the scientific literature (PMID: 30279227), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1273F missense unknown TET2 C1273F lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1273F has been identified in sequencing studies (PMID: 27276561), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1289F missense unknown TET2 C1289F lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1289F has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1374Y missense unknown TET2 C1374Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1374Y has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1378F missense unknown TET2 C1378F lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1378F has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C1396R missense unknown TET2 C1396R lies within the catalytic domain of the Tet2 protein (PMID: 24315485). C1396R has been identified in sequencing studies (PMID: 27908881), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 C784S missense unknown TET2 C784S does not lie within any known functional domains of the Tet2 protein (UniProt.org). C784S has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 D1384V missense unknown TET2 D1384V lies within the catalytic domain of the Tet2 protein (PMID: 24315485). D1384V results in an enzymatically dead protein in conjunction with H1382Y (PMID: 24315485), but has not been individually characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 D1427Y missense unknown TET2 D1427Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). D1427Y has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 E1207K missense unknown TET2 E1207K lies within the catalytic domain of the Tet2 protein (PMID: 24315485). E1207K has been identified in sequencing studies (PMID: 30279227, PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 E1879A missense unknown TET2 E1879A lies within the catalytic domain of the Tet2 protein (PMID: 24315485). E1879A has been identified in the scientific literature (PMID: 30279227, PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 F1300I missense unknown TET2 F1300I lies within the DNA-interacting region of the Tet2 protein (UniProt.org). F1300I has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 G1275E missense unknown TET2 G1275E lies within the catalytic domain of the Tet2 protein (PMID: 24315485). G1275E has been identified in sequencing studies (PMID: 20693430), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jun 2025).
TET2 G1288S missense unknown TET2 G1288S lies within the catalytic domain of the Tet2 protein (PMID: 24315485). G1288S has been identified in sequencing studies (PMID: 21828143, PMID: 26437031, PMID: 23832012), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 G1361S missense unknown TET2 G1361S lies within the catalytic domain of the Tet2 protein (PMID: 24315485). G1361S has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 G1814* nonsense unknown TET2 G1814* results in a premature truncation of the Tet2 protein at amino acid 1814 of 2002 (UniProt.org). G1814* has been identified in sequencing studies (PMID: 32107212), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 G355D missense unknown TET2 G355D does not lie within any known functional domains of the Tet2 protein (UniProt.org). G355D has been identified in sequencing studies (PMID: 31187595, PMID: 36611369, PMID: 37501402), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jun 2025).
TET2 H1219N missense unknown TET2 H1219N lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1219N has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 H1219Y missense unknown TET2 H1219Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1219Y has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 H1380L missense unknown TET2 H1380L lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1380L has been identified in sequencing studies (PMID: 24345752, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 H1380Y missense unknown TET2 H1380Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1380Y has been identified in sequencing studies (PMID: 31187595, PMID: 24030381, PMID: 37286599), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 H1778R missense no effect - predicted TET2 H1778R lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1778R is predicted to have no effect on Tet2 protein function as demonstrated by normal conversion levels of 5mC to 5hmC (PMID: 26284134).
TET2 H1868D missense unknown TET2 H1868D lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1868D has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 H1881Y missense unknown TET2 H1881Y lies within the catalytic domain of the Tet2 protein (PMID: 24315485). H1881Y has been identified in sequencing studies (PMID: 28634182), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 H924R missense unknown TET2 H924R does not lie within any known functional domains of the Tet2 protein (UniProt.org). H924R has been identified in sequencing studies (PMID: 26984174), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 I1175S missense unknown TET2 I1175S lies within the catalytic domain of the Tet2 protein (PMID: 24315485). I1175S has been identified in sequencing studies (PMID: 19797729), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 L1322P missense unknown TET2 L1322P lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1322P has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 L1326S missense unknown TET2 L1326S lies within the catalytic domain of the Tet2 protein (PMID: 28242787). L1326S has been identified in sequencing studies (PMID: 24850867), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 L1514H missense unknown TET2 L1514H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). L1514H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 L1801F missense unknown TET2 L1801F lies within the catalytic domain of the Tet2 protein (PMID: 24315485). L1801F has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 L34F missense unknown TET2 L34F does not lie within any known functional domains of the Tet2 protein (UniProt.org). L34F has been identified in sequencing studies (PMID: 23889083, PMID: 30941510, PMID: 34679548), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 L360W missense unknown TET2 L360W does not lie within any known functional domains of the Tet2 protein (UniProt.org). L360W has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 M1701I missense unknown TET2 M1701I lies within the catalytic domain of the Tet2 protein (PMID: 24315485). M1701I has been identified in sequencing studies (PMID: 19420352), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jan 2026).
TET2 N1774S missense unknown TET2 N1774S lies within the catalytic domain of the Tet2 protein (PMID: 24315485). N1774S has been identified in sequencing studies (PMID: 28429724), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Dec 2025).
TET2 N870S missense unknown TET2 N870S does not lie within any known functional domains of the Tet2 protein (UniProt.org). N870S has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 P174H missense unknown TET2 P174H does not lie within any known functional domains of the Tet2 protein (UniProt.org). P174H has been identified in sequencing studies (PMID: 26415585), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jul 2025).
TET2 P1889H missense unknown TET2 P1889H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). P1889H has been identified in sequencing studies (PMID: 21828143), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 P29R missense unknown TET2 P29R does not lie within any known functional domains of the Tet2 protein (UniProt.org). P29R has been identified in the scientific literature (PMID: 30454965, PMID: 21828143, PMID: 32158090), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jul 2025).
TET2 Q1084P missense unknown TET2 Q1084P does not lie within any known functional domains of the Tet2 protein (UniProt.org). Q1084P has been identified in the scientific literature (PMID: 19372255, PMID: 33846542), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 Q1524H missense unknown TET2 Q1524H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). Q1524H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 Q1540K missense unknown TET2 Q1540K lies within the catalytic domain of the Tet2 protein (PMID: 24315485). Q1540K has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 Q1624H missense unknown TET2 Q1624H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). Q1624H has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 R1261H missense unknown TET2 R1261H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). R1261H has been identified in sequencing studies (PMID: 26414667, PMID: 25627638), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 R1359C missense unknown TET2 R1359C lies within the catalytic domain of the Tet2 protein (PMID: 24315485). R1359C has been identified in sequencing studies (PMID: 23365461, PMID: 35345350), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 R1359H missense unknown TET2 R1359H lies within the catalytic domain of the Tet2 protein (PMID: 24315485). R1359H has been identified in sequencing studies (PMID: 24030381, PMID: 39273408), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 R1359S missense unknown TET2 R1359S lies within the catalytic domain of the Tet2 protein (PMID: 24315485). R1359S has been identified in sequencing studies (PMID: 31699793), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 R1572Q missense unknown TET2 R1572Q lies within the catalytic domain of the Tet2 protein (PMID: 24315485). R1572Q has been identified in sequencing studies (PMID: 22430270), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Jun 2025).
TET2 R2000I missense unknown TET2 R2000I lies within the catalytic domain of the Tet2 protein (PMID: 28242787). R2000I has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S1039L missense unknown TET2 S1039L does not lie within any known functional domains of the Tet2 protein (UniProt.org). S1039L has been identified in sequencing studies (PMID: 26414667, PMID: 35279121), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S1109F missense unknown TET2 S1109F does not lie within any known functional domains of the Tet2 protein (UniProt.org). S1109F has been identified in sequencing studies (PMID: 28017569), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Nov 2025).
TET2 S1203R missense unknown TET2 S1203R lies within the catalytic domain of the Tet2 protein (PMID: 24315485). S1203R has been identified in sequencing studies (PMID: 21508122), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S1290A missense unknown TET2 S1290A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). S1290A results in minor decrease of Tet2 enzymatic activity in conjunction with Y1295A in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S1303N missense unknown TET2 S1303N lies within the DNA-interacting region of the Tet2 protein (UniProt.org). S1303N results in a loss of Tet2 enzymatic activity in conjunction with K1299E in a cell free assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S1607L missense unknown TET2 S1607L lies within the catalytic domain of the Tet2 protein (PMID: 24315485). S1607L has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S1870L missense unknown TET2 S1870L lies within the catalytic domain of the Tet2 protein (PMID: 24315485). S1870L has been identified in sequencing studies (PMID: 24413737), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 S358G missense unknown TET2 S358G does not lie within any known functional domains of the Tet2 protein (UniProt.org). S358G has been identified in sequencing studies (PMID: 24433485, PMID: 30827681), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 T759P missense unknown TET2 T759P does not lie within any known functional domains of the Tet2 protein (UniProt.org). T759P has not been characterized in the scientific literature and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 V1199E missense unknown TET2 V1199E lies within the catalytic domain of the Tet2 protein (PMID: 24315485). V1199E has been demonstrated to confer RAF inhibitor resistance in the context of BRAF V600E (PMID: 34433654), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026). Y
TET2 V1718L missense unknown TET2 V1718L lies within the catalytic domain of the Tet2 protein (PMID: 24315485). V1718L has been identified in sequencing studies (PMID: 24433485, PMID: 23781511, PMID: 36931918), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TET2 Y1295A missense unknown TET2 Y1295A lies within the DNA-interacting region of the Tet2 protein (UniProt.org). Y1295A results in a minor decrease in Tet2 enzymatic activity in conjunction with S1290A in an in vitro assay (PMID: 24315485), but has not been characterized individually and therefore, its effect on Tet2 protein function is unknown.
TET2 Y867H missense unknown TET2 Y867H does not lie within any known functional domains of the Tet2 protein (UniProt.org). Y867H has been identified in the scientific literature (PMID: 26984174, PMID: 32577167), but has not been biochemically characterized and therefore, its effect on Tet2 protein function is unknown (PubMed, Feb 2026).
TP53 A119P missense unknown TP53 A119P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A119P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 A159G missense unknown TP53 A159G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A159G has been identified in sequencing studies (PMID: 37345120), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 A161G missense unknown TP53 A161G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A161G has been identified in the scientific literature (PMID: 27813088, PMID: 26723900, PMID: 37345120), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 A161P missense unknown TP53 A161P lies within the DNA-binding domain of the Tp53 protein (UniProt.org). A161P has been identified in the scientific literature (PMID: 27813088, PMID: 26723900), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 A161V missense unknown TP53 A161V lies within the DNA-binding domain of the Tp53 protein (PMID: 21232794). A161V does not result in decreased drug-induced apoptosis compared to wild-type Tp53 (PMID: 12726864), and results in interaction with Tbk1 and decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 A189D missense unknown TP53 A189D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). A189D results in decreased transactivation activity in a yeast assay (PMID: 40315252), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 A189T missense unknown TP53 A189T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). A189T has been identified in the scientific literature (PMID: 8688317), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 A276_G279del deletion unknown TP53 A276_G279del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 276 to 279 (PMID: 21760703). A276_G279del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 A276V missense loss of function - predicted TP53 A276V lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). A276V results in p21 expression similar to wild-type in culture (PMID: 37697151) but leads to decreased apoptosis and caspase 3 activity upon treatment with methotrexate and increased migration compared to wild-type in culture (PMID: 37554177), and therefore, is predicted to lead to a loss of Tp53 protein function.
TP53 A307P missense unknown TP53 A307P lies within the CCAR2, HIPK1, and CARM1-interacting regions of the Tp53 protein (UniProt.org). A307P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 A307S missense unknown TP53 A307S lies within the CCAR2, HIPK1, and CARM1-interacting region of the Tp53 protein (UniProt.org). A307S has been identified in the scientific literature (PMID: 25220666, PMID: 16094622), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 A307T missense unknown TP53 A307T lies within the CCAR2, HIPK1, and CARM1-interacting region of the Tp53 protein (UniProt.org). A307T has been identified in sequencing studies (PMID: 28949453), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 A353V missense unknown TP53 A353V lies within the tetramerization domain of the Tp53 protein (PMID: 15510160). A353V has been identified in sequencing studies (PMID: 29348365, PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 A74T missense unknown TP53 A74T lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). A74T has been identified in sequencing studies (PMID: 19336573, PMID: 23009112), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 C124G missense unknown TP53 C124G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C124G has been identified in sequencing studies (Journal of Thoracic Oncology, Vol 13, Issue 10, S987-S988, PMID: 26467027), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 C135W missense loss of function - predicted TP53 C135W lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C135W results in decreased transactivation of p21 in a reporter assay (PMID: 39140857), and therefore, is predicted to lead to a loss of Tp53 protein function.
TP53 C141R missense unknown TP53 C141R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C141R has been identified in the scientific literature (PMID: 26160192, PMID: 21483000, PMID: 29728688), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 C176R missense unknown TP53 C176R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C176R has been identified in the scientific literature (PMID: 33250737, PMID: 37379264), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 C238_M246del deletion unknown TP53 C238_M246del results in the deletion of nine amino acids in the DNA-binding domain of the Tp53 protein from amino acids 238 to 246 (UniProt.org). C238_M246del has been identified in sequencing studies (PMID: 11895856), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 C238W missense unknown TP53 C238W lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238W has been identified in the scientific literature (PMID: 29505425, PMID: 37681218, PMID: 39457600), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 C242R missense unknown TP53 C242R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C242R results in decreased transactivation activity in a yeast assay (PMID: 17947339), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 C275F missense unknown TP53 C275F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C275F has been identified in the scientific literature (PMID: 35155188, PMID: 37404765, PMID: 27095739), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 C275Y missense loss of function - predicted TP53 C275Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C275Y is predicted to confer a loss of function to Tp53, as it results in decreased activation of the Tp53 target p21, and is associated with increased glycolysis in cell culture (PMID: 28993478).
TP53 D228N missense unknown TP53 D228N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). D228N has been identified in sequencing studies (PMID: 26317919, PMID: 37593116, PMID: 26677030), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 D259G missense unknown TP53 D259G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). D259G has been identified in the scientific literature (PMID: 21232794, PMID: 29936259, PMID: 15580553), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2025).
TP53 D259Y missense unknown TP53 D259Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D259Y has been identified in the scientific literature (PMID: 30139768, PMID: 35724546, PMID: 38219954), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 D281Y missense unknown TP53 D281Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). D281Y has been identified in the scientific literature (PMID: 36734633, PMID: 39659251), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E171_V172insDDV insertion unknown TP53 E171_V172insDDV results in the insertion of three amino acids in the DNA-binding domain of the Tp53 protein between amino acids 171 and 172 (PMID: 22713868). E171_V172insDDV has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 E171Q missense unknown TP53 E171Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E171Q has been identified in the scientific literature (PMID: 28679771), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 E171V missense unknown TP53 E171V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E171V has been identified in sequencing studies (PMID: 23991606), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 E198D missense unknown TP53 E198D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E198D has been predicted to stabilize the S6-S7 loop by structural modeling (PMID: 35659507), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E204G missense unknown TP53 E204G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E204G has been identified in the scientific literature (PMID: 8344494, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E224D missense loss of function TP53 E224D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E224D results in defective splicing and loss of Tp53 expression in a minigene splicing assay (PMID: 39780207), in cultured cells and in a mouse model, leads to tumor formation and decreased survival in mice (PMID: 40043089), and is associated with loss of Tp53 expression in patient samples (PMID: 38555766).
TP53 E224K missense unknown TP53 E224K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E224K demonstrates defects in Tp53 transactivation activity in a yeast assay (PMID: 11429705), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 E258A missense unknown TP53 E258A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E258A has been identified in the scientific literature (PMID: 17786186, PMID: 32164171, PMID: 35856441), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 E285Q missense unknown TP53 E285Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E285Q has been identified in the scientific literature (PMID: 12010886, PMID: 25473901, PMID: 26231518), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E286D missense unknown TP53 E286D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E286D has been identified in the scientific literature (PMID: 32886187, PMID: 33178750), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 E294G missense unknown TP53 E294G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E294G has been identified in sequencing studies (PMID: 22216294), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E298V missense unknown TP53 E298V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). E298V has been identified in sequencing studies (PMID: 26205736, PMID: 31795195), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E343Gfs*2 frameshift loss of function - predicted TP53 E343Gfs*2 indicates a shift in the reading frame starting at amino acid 343 and terminating 2 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). E343Gfs*2 has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E343 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
TP53 E349fs frameshift unknown TP53 E349fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 349 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E349fs has been identified in sequencing studies (PMID: 24140581, PMID: 36741442, PMID: 39284955), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 E358G missense unknown TP53 E358G lies within the HIPK1, CARM1 and HIPK2-interacting region of the Tp53 protein (UniProt.org). E358G has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 F109L missense unknown TP53 F109L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F109L has been identified in sequencing studies (PMID: 33209609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 F113Y missense unknown TP53 F113Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F113Y has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 F212C missense unknown TP53 F212C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F212C has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 F212V missense unknown TP53 F212V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F212V has been identified in sequencing studies (PMID: 28769798, PMID: 39843568, PMID: 36660245), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 F270L missense unknown TP53 F270L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). F270L has been identified in the scientific literature (PMID: 12826609, PMID: 17015838), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 F338S missense unknown TP53 F338S lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F338S results in decreased Tp53 transcriptional activity in yeast assays (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 F338Y missense unknown TP53 F338Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F338Y has no effect on tetramerization in a yeast assay (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 F341V missense unknown TP53 F341V lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). F341V results in the inability to form Tp53 tetramers and decreased Tp53 transcriptional activity in yeast assays (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 function is unknown.
TP53 G105A missense unknown TP53 G105A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G105A has been identified in sequencing studies (PMID: 36425869, PMID: 36815791), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 G105C missense unknown TP53 G105C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G105C is predicted to alter Tp53 protein stability and increase steric hinderance leading to altered protein-protein interactions by structural modeling (PMID: 40333905), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 G105D missense unknown TP53 G105D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G105D has been identified in the scientific literature (PMID: 16000567, PMID: 27273737), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 G108V missense unknown TP53 G108V lies within the DNA-binding domain of the Tp53 protein (UniProt.org). G108V has been identified in the scientific literature (PMID: 27167113), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 G112C missense unknown TP53 G112C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G112C has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 G112D missense unknown TP53 G112D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G112D has been identified in sequencing studies (PMID: 29956783, PMID: 35796015, PMID: 31700061), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 G112S missense unknown TP53 G112S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G112S has been identified in sequencing studies (PMID: 30503610, PMID: 26572169), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 G117E missense unknown TP53 G117E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G117E results in decreased Tp53 transcriptional activity in a yeast assay (PMID: 11429700), but has not been characterized in human cells and therefore, its effect on Tp53 function is unknown.
TP53 G154A missense unknown TP53 G154A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154A has been identified in sequencing studies (PMID: 30772141, PMID: 38409229), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 G154C missense unknown TP53 G154C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154C has been identified in sequencing studies (PMID: 26718964, PMID: 28002797, PMID: 39725687), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 G154R missense unknown TP53 G154R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154R has been identified in sequencing studies (PMID: 25010305), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 G154S missense no effect - predicted TP53 G154S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G154S demonstrates transactivation activity similar to wild-type in a reporter assay and in cell culture and results in Tp53 phosphorylation and P21 expression similar to wild-type (PMID: 39060302), and therefore, is predicted to have no effect on Tp53 protein function.
TP53 G244C missense unknown TP53 G244C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G244C has been identified in the scientific literature (PMID: 31588418, PMID: 41908666, PMID: 31186738), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 G245_M246insAMC insertion unknown TP53 G245_M246insAMC results in the insertion of three amino acids in the DNA-binding domain of the Tp53 protein between amino acids 245 and 246 (PMID: 22713868). G245_M246insAMC has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 G245R missense unknown TP53 G245R is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G245R has been identified in the scientific literature (PMID: 17041903, PMID: 31073076, PMID: 32380900), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 G262D missense unknown TP53 G262D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G262D demonstrates a loss of transcriptional activity in a yeast assay (PMID: 11429705), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 G262R missense unknown TP53 G262R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). G262R has been identified in sequencing studies (PMID: 23243274), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 G279_R282del deletion unknown TP53 G279_R282del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 279 to 282 (UniProt.org). G279_R282del has been identified in the scientific literature (PMID: 31837433), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 G334W missense unknown TP53 G334W lies within the hinge residue of the oligomerization domain of the Tp53 protein (PMID: 16007150). G334W results in a loss of Tp53 transactivation activity in yeast (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 H168D missense unknown TP53 H168D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H168D has been identified in sequencing studies (PMID: 10709097), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H178N missense unknown TP53 H178N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H178N has been identified in the scientific literature (PMID: 19106606, PMID: 26366557), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H178R missense unknown TP53 H178R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H178R has been identified in sequencing studies (PMID: 21232794), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H179D missense unknown TP53 H179D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179D has been identified in the scientific literature (PMID: 42038400, PMID: 39522642, PMID: 28557976), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H179P missense unknown TP53 H179P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H179P has been identified in the scientific literature (PMID: 29483209, PMID: 25716545, PMID: 38883659), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H193L missense unknown TP53 H193L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193L has been identified in the scientific literature (PMID: 21056685, PMID: 19944185, PMID: 33562071), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H193Q missense unknown TP53 H193Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193Q has been identified in the scientific literature (PMID: 23200980), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H193Y missense unknown TP53 H193Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193Y is associated with reduced expression levels of CDKN1A mRNA and Fdxr protein in cell culture (PMID: 31500291), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 H214Y missense unknown TP53 H214Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H214Y has been identified in the scientific literature (PMID: 26586531, PMID: 36091175), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 H296Y missense unknown TP53 H296Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H296Y has been identified in the scientific literature (PMID: 27288520, PMID: 38803860), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H297L missense unknown TP53 H297L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H297L has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H297P missense unknown TP53 H297P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H297P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 H297R missense unknown TP53 H297R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H297R has been identified in sequencing studies (PMID: 28667006), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I195F missense unknown TP53 I195F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I195F has been identified in sequencing studies (PMID: 30613367, PMID: 27276561, PMID: 32561076), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I195M missense unknown TP53 I195M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I195M has been identified in the scientific literature (PMID: 26870891), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I195N missense unknown TP53 I195N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I195N has been identified in the scientific literature (PMID: 24221193, PMID: 34050359), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I251M missense unknown TP53 I251M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I251M has been identified in the scientific literature (PMID: 28838384), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I251N missense unknown TP53 I251N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). I251N has been identified in the scientific literature (PMID: 27034009, PMID: 38158377), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I255N missense unknown TP53 I255N lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I255N has been identified in the scientific literature (PMID: 32945487, PMID: 38571902), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 I255S missense loss of function - predicted TP53 I255S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). I255S results in decreased transactivation activity in a yeast assay (PMID: 12826609) and in a reporter assay (PMID: 39140857), and therefore, is predicted to lead to a loss of Tp53 protein function.
TP53 I332T missense unknown TP53 I332T lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). I332T results in decreased Tp53 transcriptional activity in yeast assays (PMID: 16007150), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 I50S missense unknown TP53 I50S lies within the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein (UniProt.org). I50S has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K101N missense unknown TP53 K101N lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). K101N has been identified in the scientific literature (PMID: 20847049), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K101Q missense unknown TP53 K101Q lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). K101Q has been identified in the scientific literature (PMID: 39075588), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K132M missense unknown TP53 K132M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132M has been identified in the scientific literature (PMID: 20634494, PMID: 33546249), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K132Q missense unknown TP53 K132Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132Q results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 12779080), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 K132T missense unknown TP53 K132T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K132T has been identified in sequencing studies (PMID: 26373574, PMID: 25287991), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 K139M missense unknown TP53 K139M lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K139M has been identified in sequencing studies (PMID: 30578357, PMID: 37537257), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 K164E missense loss of function TP53 K164E lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164E confers a loss of function to the Tp53 protein as demonstrated by decreased transactivation of Tp53 target genes, decreased growth suppression, and loss of DNA binding in culture (PMID: 38050059).
TP53 K164Q missense no effect - predicted TP53 K164Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164Q results in DNA binding and growth suppression similar to wild-type TP53 in culture, maintains transcriptional activity in a reporter assay, and transactivates p21 and Mdm2 expression in culture (PMID: 38050059), and therefore, is predicted to have no effect on Tp53 protein function.
TP53 K164T missense unknown TP53 K164T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K164T has been identified in sequencing studies (PMID: 30123427, PMID: 31795195, PMID: 28683468), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 K24I missense unknown TP53 K24I lies within the CCAR2 and HRMT1L2-interacting and transcription activation regions of the Tp53 protein (UniProt.org). K24I has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K292Q missense unknown TP53 K292Q lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). K292Q has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K305T missense unknown TP53 K305T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). K305T has been identified in sequencing studies (PMID: 27302369, PMID: 31501609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 K319E missense unknown TP53 K319E lies within the CCAR2, HIPK1, CARM1, and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K319E has been identified in sequencing studies (PMID: 29085664), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K321E missense unknown TP53 K321E lies within the HIPK1, CARM1 and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K321E has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 K321R missense unknown TP53 K321R lies within the HIPK1, CARM1, and HIPK2-interacting regions and the bipartite nuclear localization signal motif of the Tp53 protein (UniProt.org). K321R maintains acetylation in an in vitro assay (PMID: 9891054) and Daxx binding similar to the level of wild-type Tp53 in yeast (PMID: 15364927), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 K382Nfs*96 frameshift unknown TP53 K382Nfs*96 indicates a shift in the reading frame starting at amino acid 382 and terminating 96 residues downstream, resulting in premature truncation of the functional protein and extension of the 393 aa Tp53 protein length by 85 amino acids (UniProt.org). K382Nfs*96 has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Mar 2026).
TP53 L111M missense unknown TP53 L111M lies within the DNA-binding domain and the CCAR2, HIPK1, and ZNF385A-interacting region of the Tp53 protein (UniProt.org). L111M has been identified in sequencing studies (PMID: 26933808, PMID: 25287991, PMID: 31851786), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 L111P missense unknown TP53 L111P lies within the DNA-binding domain and CCAR2, HIPK1, and ZNF385A-interacting region of the Tp53 protein (UniProt.org). L111P has been identified in sequencing studies (PMID: 38487343, PMID: 41047423, PMID: 37745839), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L111Q missense unknown TP53 L111Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L111Q has been identified in the scientific literature (PMID: 27179933, PMID: 25471132, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L130F missense unknown TP53 L130F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130F has been identified in the scientific literature (PMID: 35118995, PMID: 38254847, PMID: 38394494), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L130I missense unknown TP53 L130I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130I has been identified in sequencing studies (PMID: 28949453, PMID: 26319365, PMID: 31754145), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L130R missense unknown TP53 L130R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130R has been identified in the scientific literature (PMID: 12826609, PMID: 26070072), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L137M missense unknown TP53 L137M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). L137M has been identified in the scientific literature (PMID: 16183105, PMID: 9349508), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L137Q missense loss of function TP53 L137Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L137Q results in a loss of p21 induction and anti-proliferation response in culture, and the genomic change leads to aberrant splicing and reduced mRNA level (PMID: 39774325).
TP53 L194F missense loss of function TP53 L194F lies within the DNA binding domain of the Tp53 protein (UniProt.org). L194F confers a loss of function to the Tp53 protein, as demonstrated by decreased Tp53 transactivation activity and decreased binding to Bcl2 in cell culture (PMID: 16443602).
TP53 L194H missense unknown TP53 L194H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L194H is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 34584144), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L206F missense unknown TP53 L206F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L206F has been identified in sequencing studies (PMID: 38896179), but has not been biochemically characterized and therefore, its effect on Tp53protein function is unknown (PubMed, Sep 2025).
TP53 L22P missense unknown TP53 L22P lies within the HRMT1L2 and CCAR2-interacting and transcription activation regions of the Tp53 protein (UniProt.org). L22P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 L252_I254del deletion unknown TP53 L252_I254del results in the deletion of three amino acids in the DNA-binding region of the Tp53 protein from amino acids 252 to 254 (UniProt.org). L252_I254del has been identified in sequencing studies (PMID: 27756888, PMID: 32453797), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 L252_I254dup duplication unknown TP53 L252_I254dup indicates the insertion of three duplicate amino acids, leucine (L)-252 through isoleucine (I)-254, in the DNA-binding domain of the Tp53 protein (PMID: 22713868). L252_I254dup has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 L257V missense unknown TP53 L257V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L257V has been identified in sequencing studies (PMID: 33569316, PMID: 33251333, PMID: 31922633), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L265_G266del deletion unknown TP53 L265_G266del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 265 to 266 (UniProt.org). L265_G266del has been identified in the scientific literature (PMID: 41504628), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 L265V missense unknown TP53 L265V lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L265V has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L299R missense unknown TP53 L299R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L299R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 L308R missense unknown TP53 L308R lies within the HIPK1, CCAR2, and CARM1-interacting regions of the Tp53 protein (UniProt.org). L308R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 L323R missense unknown TP53 L323R lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). L323R has been identified in sequencing studies (PMID: 10225439, PMID: 39725148), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 M160K missense unknown TP53 M160K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M160K has been identified in sequencing studies (PMID: 26837699, PMID: 26205736, PMID: 33257044), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 M160R missense unknown TP53 M160R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M160R has been identified in the scientific literature (PMID: 14559903), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 M237_S241del deletion unknown TP53 M237_S241del results in the deletion of five amino acids in the DNA-binding domain of the Tp53 protein (PMID: 22713868). M237_S241del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 M237K missense unknown TP53 M237K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). M237K is predicted to decrease protein-protein interactions by structural modeling (PMID: 41677935), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 M237V missense unknown TP53 M237V lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). M237V demonstrates partial transcriptional activity compared to wild-type Tp53 (Blood (2019) 134 (Supplement_1): 5405), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 M246A missense unknown TP53 M246A lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). M246A results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 N131D missense unknown TP53 N131D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N131D has been identified in sequencing studies (PMID: 24405831), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N131K missense unknown TP53 N131K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N131K has been identified in the scientific literature (PMID: 30206212, PMID: 29979965, PMID: 28222664), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N131S missense unknown TP53 N131S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N131S has been identified in the scientific literature (PMID: 29979965, PMID: 24330579), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N131T missense unknown TP53 N131T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N131T has been identified in the scientific literature (PMID: 29979965, PMID: 29936259), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N200K missense unknown TP53 N200K lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N200K has been identified in the scientific literature (PMID: 29979965, PMID: 23200980), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N235_Y236dup duplication unknown TP53 N235_Y236dup indicates the insertion of two duplicate amino acids, asparagine (N)-235 through tyrosine (Y)-236, in the DNA-binding domain of the Tp53 protein (UniProt.org). N235_Y236dup has been identified in sequencing studies (PMID: 37792634), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 N235Y missense unknown TP53 N235Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N235Y has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N239_C242del deletion unknown TP53 N239_C242del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 239 to 242 (PMID: 22713868). N239_C242del has been identified in the scientific literature (PMID: 38140788 ), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 N239D missense loss of function TP53 N239D lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). N239D results in a loss of Tp53 transactivation activity in a yeast assay (PMID: 20407015), reporter assay, and in cell culture, and leads to increased proliferation in cultured cells (PMID: 40240485).
TP53 N239I missense unknown TP53 N239I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N239I has been identified in the scientific literature (PMID: 29625247, PMID: 28477877, PMID: 22493262), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N247D missense unknown TP53 N247D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N247D has been identified in the scientific literature (PMID: 22866089, PMID: 35978873, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N268I missense unknown TP53 N268I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). N268I has been identified in the scientific literature (PMID: 23200980, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 N288fs frameshift loss of function - predicted TP53 N288fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 288 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). N288fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of N288 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
TP53 N310H missense unknown TP53 N310H lies within the CCAR2, HIPK1, and CARM1-interacting regions of the Tp53 protein (UniProt.org). N310H has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N310I missense unknown TP53 N310I lies within the CCAR2, HIPK1, and CARM1-interacting region and bipartite nuclear localization signal region of the Tp53 protein (UniProt.org). N310I has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N310S missense unknown TP53 N310S lies within the HIPK1, CCAR2, and CARM1-interacting region and bipartite nuclear localization signal region of the Tp53 protein (UniProt.org). N310S has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 N311S missense no effect TP53 N311S lies within the linker region of the Tp53 protein (PMID: 24076587). N311S results in DNA-binding activity, apoptotic activity, and activation of STAT4 similar to wild-type Tp53 in culture (PMID: 24076587).
TP53 N345Y missense unknown TP53 N345Y lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). N345Y results in predominantly monomeric Tp53, but retains transactivation activity in yeast assays (PMID: 16007150), but has has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 P12S missense unknown TP53 P12S lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). P12S has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Mar 2026).
TP53 P151L missense unknown TP53 P151L lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P151L has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P177_E180del deletion unknown TP53 P177_E180del results in the deletion of four amino acids in the DNA-binding domain of the Tp53 protein from amino acids 177 to 180 (UniProt.org). P177_E180del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 P177A missense unknown TP53 P177A lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P177A has been identified in the scientific literature (PMID: 29979965, PMID: 30337457), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P177S missense unknown TP53 P177S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P177S has been identified in the scientific literature (PMID: 11896595, PMID: 29979965, PMID: 26319365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P190A missense unknown TP53 P190A lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P190A has been identified in the scientific literature (PMID: 29979965, PMID: 29872864), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P190L missense unknown TP53 P190L lies within the DNA-binding domain of the Tp53 protein (UniProt.org). P190L results in decreased transactivation of the Tp53 target gene, TLR3, but increased transactivation of TLR5 compared to wild-type Tp53 in cultured cells (PMID: 27533082), and therefore, its effect on Tp53 protein function is unknown.
TP53 P190T missense loss of function TP53 P190T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P190T results in loss of DNA binding in a reporter assay and decreased activation of Tp53 targets in culture, promotes proliferation and migration, and additionally confers a gain of function to Tp53, resulting in aberrant DNA binding in a reporter assay and transcriptional activation in culture (PMID: 38358025).
TP53 P191del deletion unknown TP53 P191del results in the deletion of an amino acid in the DNA-binding domain of the Tp53 protein at amino acid 191 (UniProt.org). P191del has been identified in the scientific literature (PMID: 12010886, PMID: 39649724), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P223R missense unknown TP53 P223R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P223R has been identified in the scientific literature (PMID: 21197471, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P223T missense unknown TP53 P223T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). P223T has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P250L missense loss of function TP53 P250L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P250L results in aggregation and decreased nuclear localization of Tp53, demonstrates decreased Tp53 transactivation activity, and interferes with wild-type Tp53 transactivation activity in cell culture (PMID: 21445056).
TP53 P278H missense unknown TP53 P278H lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P278H has been identified in the scientific literature (PMID: 27022024, PMID: 25151357, PMID: 30978502), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P278T missense unknown TP53 P278T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). P278T has been identified in the scientific literature (PMID: 26870891, PMID: 38803860), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P27S missense unknown TP53 P27S lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). P27S has been identified in sequencing studies (PMID: 34974877), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P295A missense unknown TP53 P295A lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P295A has been identified in sequencing studies (PMID: 25605254), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P295L missense unknown TP53 P295L lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P295L has been identified in the scientific literature (PMID: 26373574, PMID: 22866089), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P300A missense unknown TP53 P300A lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P300A has been identified in sequencing studies (PMID: 10084308), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P300H missense unknown TP53 P300H lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P300H has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P300R missense unknown TP53 P300R lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P300R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P301Q missense unknown TP53 P301Q lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P301Q has been identified in the scientific literature (PMID: 29416736, PMID: 31856745), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P301R missense unknown TP53 P301R lies within the DNA-binding domain of the Tp53 protein (PMID: 20978130). P301R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P309S missense unknown TP53 P309S lies within the CCAR2, HIPK1, and CARM1-interacting regions and the bipartite nuclear localization signal region of the Tp53 protein (UniProt.org). P309S results in constitutive activation of p21 in conjunction with R273H (PMID: 16061257), but has not been individually characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 P322A missense unknown TP53 P322A lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322A has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P322Q missense unknown TP53 P322Q lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322Q has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P322R missense unknown TP53 P322R lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322R has been identified in the scientific literature (PMID: 10225439), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P322S missense unknown TP53 P322S lies within the CARM1, HIPK1, and HIPK2-interacting regions of the Tp53 protein (UniProt.org). P322S has been identified in the scientific literature (PMID: 25952750), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P359L missense unknown TP53 P359L lies within the CARM1, HIPK1, HIPK2, and USP7-interacting regions of the Tp53 protein (UniProt.org). P359L has been identified in the scientific literature (PMID: 29416736), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P98L missense loss of function - predicted TP53 P98L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). P98L results in decreased transactivation activity in a reporter assay (PMID: 39140857), and therefore, is predicted to lead to a loss of Tp53 protein function.
TP53 P98R missense unknown TP53 P98R lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). P98R has been identified in sequencing studies (PMID: 42007254), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 P98S missense unknown TP53 P98S lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). P98S has been identified in the scientific literature (PMID: 27311873, PMID: 20404912, PMID: 18818522), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Q100P missense unknown TP53 Q100P lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). Q100P has been identified in sequencing studies (PMID: 34118831), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 Q100R missense unknown TP53 Q100R lies within the CCAR2, WWOX, HIPK1, and ZNF385A-interacting regions of the Tp53 protein (UniProt.org). Q100R has been identified in the scientific literature (PMID: 20847049), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 Q136H missense unknown TP53 Q136H lies within the DNA-binding domain and CCAR2, HIPK1, ZNF385A, FBXO42, and AXIN1-interacting regions of the Tp53 protein (UniProt.org). Q136H is predicted to alter Tp53 protein stability and increase steric hinderance leading to altered protein-protein interactions by structural modeling (PMID: 40333905), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 Q136L missense unknown TP53 Q136L lies within the DNA-binding domain and CCAR2, HIPK1, ZNF385A, FBXO42, and AXIN1-interacting regions of the Tp53 protein (UniProt.org). Q136L has been identified in sequencing studies (PMID: 25401301, PMID: 22493262), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Q136P missense unknown TP53 Q136P lies within the DNA-binding domain and CCAR2, HIPK1, ZNF385A, FBXO42, and AXIN1-interacting regions of the Tp53 protein (UniProt.org). Q136P is predicted to alter Tp53 protein stability and protein-protein interactions by structural modeling (PMID: 40333905), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jun 2026).
TP53 Q144H missense unknown TP53 Q144H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Q144H has been identified in the scientific literature (PMID: 12010886), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Q167L missense unknown TP53 Q167L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Q167L has been identified in the scientific literature (PMID: 11275993, PMID: 15050734, PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Q192K missense unknown TP53 Q192K lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). Q192K has been identified in the scientific literature (PMID: 22982087, PMID: 9635831), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Q192L missense unknown TP53 Q192L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). Q192L is predicted to destabilize the L2 loop by structural modeling (PMID: 39140857), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 R158C missense unknown TP53 R158C lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R158C has been identified in the scientific literature (PMID: 25561229, PMID: 30766968, PMID: 38892462), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 R174G missense unknown TP53 R174G lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R174G has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 R174M missense unknown TP53 R174M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R174M has been identified in the scientific literature (PMID: 7767998, PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 R174Q missense unknown TP53 R174Q lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R174Q has been identified in sequencing studies (PMID: 31328403, PMID: 29321523), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 R181S missense unknown TP53 R181S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181S has been identified in sequencing studies (PMID: 29348365, PMID: 22932667, PMID: 21232794), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 R196L missense unknown TP53 R196L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R196L has been identified in the scientific literature (PMID: 25847421, PMID: 27432539, PMID: 33850299), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 R196P missense unknown TP53 R196P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R196P has been identified in the scientific literature (PMID: 25765855, PMID: 38472508, PMID: 38601768), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 R213G missense unknown TP53 R213G lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). R213G has been identified in sequencing studies (PMID: 28744014, PMID: 38643353, PMID: 31590326), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 R213L missense unknown TP53 R213L lies within the DNA-binding domain of the Tp53 protein (UniProt.org). R213L results in decreased transactivation in a yeast assay (PMID: 37838351), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
TP53 R249K missense unknown TP53 R249K is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R249K has been identified in the scientific literature (PMID: 27101868, PMID: 29445290), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 R267L missense unknown TP53 R267L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R267L has been identified in the scientific literature (PMID: 23954467, PMID: 28222664, PMID: 32294448), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 R273Y missense unknown TP53 R273Y is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R273Y has been identified in the scientific literature (PMID: 29150975, PMID: 29026176), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 R280I missense unknown TP53 R280I lies within the DNA-binding domain of the Tp53 protein (PMID: 21056992). R280I has been identified in the scientific literature (PMID: 29700339, PMID: 27167113, PMID: 25695693), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 R282H missense unknown TP53 R282H is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R282H has been identified in the scientific literature (PMID: 29298430, PMID: 10582680), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S106N missense unknown TP53 S106N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S106N has been identified in sequencing studies (PMID: 29451897), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 S106T missense unknown TP53 S106T lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S106T has been identified in sequencing studies (PMID: 24573554), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S127Y missense unknown TP53 S127Y lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S127Y has been identified in the scientific literature (PMID: 28351930, PMID: 38538867, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 S149C missense unknown TP53 S149C lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S149C has been identified in the scientific literature (PMID: 17294448), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S185R missense unknown TP53 S185R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S185R has been identified in the scientific literature (PMID: 29979965, PMID: 11454518), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S215I missense loss of function - predicted TP53 S215I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S215I is predicted to confer a loss of function to the Tp53 protein, as demonstrated by the inability to transactivate Mdm2 in an in vitro assay (PMID: 17325666).
TP53 S215R missense unknown TP53 S215R lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). S215R is predicted to result in a constitutively active S6-S7 loop by structural modeling (PMID: 35659507), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S227F missense unknown TP53 S227F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S227F has been identified in the scientific literature (PMID: 16818615, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S227P missense unknown TP53 S227P lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S227P has been identified in the scientific literature (PMID: 26687995, PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S240T missense unknown TP53 S240T lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S240T has been identified in the scientific literature (PMID: 29979965), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S269R missense unknown TP53 S269R lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). S269R has been identified in the scientific literature (PMID: 29979965, PMID: 28338653), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S303G missense unknown TP53 S303G lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S303G has been identified in sequencing studies (PMID: 29348365), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S303R missense unknown TP53 S303R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). S303R has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S362C missense unknown TP53 S362C lies within the CARM1, HIPK1, and USP7-interacting regions of the Tp53 protein (UniProt.org). S362C has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 S366Y missense unknown TP53 S366Y lies within HIPK1 and CARM1-interacting regions of the Tp53 protein (UniProt.org). S366Y has been identified in the scientific literature (PMID: 12826609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S392fs frameshift unknown TP53 S392fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 392 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S392fs has been identified in sequencing studies (PMID: 29604399), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S96F missense unknown TP53 S96F lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S96F has been identified in the scientific literature (PMID: 37563300, PMID: 19336573, PMID: 27574101), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S96P missense unknown TP53 S96P lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S96P demonstrates enhanced Tp53 transactivation activity in a yeast assay (PMID: 11313981), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 S99A missense unknown TP53 S99A lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99A has been identified in the scientific literature (PMID: 12826609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S99F missense loss of function - predicted TP53 S99F lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99F does not interfere with Tp73 transactivation in a yeast assay (PMID: 12917626) and results in decreased transactivation of p21 in a reporter assay (PMID: 39140857), and therefore, is predicted to lead to a loss of Tp53 protein function.
TP53 S99P missense unknown TP53 S99P lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99P has been identified in the scientific literature (PMID: 12826609), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S99Y missense unknown TP53 S99Y lies within the CCAR2 and WWOX-interacting regions of the Tp53 protein (UniProt.org). S99Y has been identified in the scientific literature (PMID: 11896595), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 S9N missense unknown TP53 S9N lies within the CCAR2 and HRMT1L2-interacting regions and the transcription activation region of the Tp53 protein (UniProt.org). S9N has been identified in the scientific literature (PMID: 12826609, PMID: 28187452), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 T140_C141del deletion unknown TP53 T140_C141del results in the deletion of two amino acids in the DNA-binding domain of the Tp53 protein from amino acids 140 to 141 (PMID: 22713868). T140_C141del has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 T140I missense unknown TP53 T140I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T140I is predicted to destabilize the S6-S7 loop by structural modeling (PMID: 35659507), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T140S missense unknown TP53 T140S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T140S has been identified in the scientific literature (PMID: 32234759), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T150_P151del deletion unknown TP53 T150_P151del results in the deletion of two amino acids in the CCAR2 and HRMT1L2-interacting regions of the Tp53 protein from amino acids 150 to 151 (UniProt.org). T150_P151del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 T150R missense unknown TP53 T150R lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T150R has been identified in the scientific literature (PMID: 17294448, PMID: 12010886), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 T170M missense unknown TP53 T170M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T170M has been identified in the scientific literature (PMID: 36979829, PMID: 37185420, PMID: 30107178), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T170P missense unknown TP53 T170P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T170P has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 T211S missense unknown TP53 T211S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T211S results in altered transcriptional activity in yeast (PMID: 15781620), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 T230P missense unknown TP53 T230P lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T230P has been identified in the scientific literature (PMID: 29979965, PMID: 28477877, PMID: 32265839), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T253_L257del deletion unknown TP53 T253_L257del results in the deletion of five amino acids in the DNA-binding region of the Tp53 protein from amino acids 253 to 257 (UniProt.org). T253_L257del has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 T256I missense unknown TP53 T256I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T256I is predicted to have no effect on protein stability by structural modeling (PMID: 36359870), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T256K missense unknown TP53 T256K lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T256K has been identified in the scientific literature (PMID: 22801474, PMID: 21380628, PMID: 36906072), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T284A missense no effect TP53 T284A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). T284A does not impair oligomerization of the pro-apoptotic protein Bak (PMID: 18524770), and induces the expression of its target genes p21 and Bak similar to wild-type Tp53 in a cell culture assay (PMID: 20959462).
TP53 T329A missense no effect TP53 T329A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). T329A demonstrates activity similar to wild-type TP53 including transactivation activity, suppression of the MDR-1 promoter, and cell growth inhibition (PMID: 10329187).
TP53 T377P missense unknown TP53 T377P lies within the region of the Tp53 protein involved in repression of DNA binding and the CARM1-interacting region (UniProt.org). T377P has been identified in sequencing studies (PMID: 27023146, PMID: 35043155), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 T377S missense unknown TP53 T377S lies within the region of the Tp53 protein involved in repression of DNA binding and the CARM1-interacting region (UniProt.org). T377S has not been characterized in the scientific literature and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 V122E missense unknown TP53 V122E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V122E results in altered transcriptional activity in yeast (PMID: 15781620), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 V122M missense unknown TP53 V122M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V122M results in altered transcriptional activity in yeast (PMID: 15781620), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 V147A missense unknown TP53 V147A lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V147A has been identified in sequencing studies (PMID: 30048458, PMID: 24618614), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 V157_I162del deletion unknown TP53 V157_I162del results in the deletion of six amino acids in the DNA-binding region of the Tp53 protein from amino acids 157 to 162 (UniProt.org). V157_I162del has been identified in sequencing studies (PMID: 33754015), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Apr 2026).
TP53 V157L missense unknown TP53 V157L lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). V157L is predicted to decreased Tp53 protein stability by computational modeling (PMID: 39774325), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 V172F missense loss of function - predicted TP53 V172F lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V172F results in enhanced interaction with Mdm4 and confers context-dependent alterations in Tp53 stability (PMID: 26876197), and therefore, is predicted to lead to a loss of Tp53 protein function.
TP53 V173dup duplication unknown TP53 V173dup indicates the insertion of the duplicate amino acid, valine (V)-173, in the DNA-binding domain of the Tp53 protein (PMID: 22713868). V173dup has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 V203E missense unknown TP53 V203E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203E has been identified in the scientific literature (PMID: 27022024, PMID: 30309854, PMID: 24501221), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 V203L missense unknown TP53 V203L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203L has been identified in the scientific literature (PMID: 34497363, PMID: 35438902, PMID: 30416685), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 V203M missense unknown TP53 V203M lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V203M has been identified in the scientific literature (PMID: 34605602), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 V218del deletion unknown TP53 V218del results in the deletion of one amino acid within the DNA-binding domain of the Tp53 protein (PMID: 21760703). V218del has been identified in the scientific literature (PMID: 31892709, PMID: 38431700), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 V272A missense unknown TP53 V272A lies within the DNA-binding domain of the Tp53 protein (UniProt.org). V272A results in increased expression of Tp53 in an in vitro assay (PMID: 28363997), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 V274A missense unknown TP53 V274A lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). V274A has been identified in the scientific literature (PMID: 26619011, PMID: 38390699), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 Y103S missense unknown TP53 Y103S lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Y103S has not been characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 Y107N missense unknown TP53 Y107N lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). Y107N has been identified in sequencing studies (PMID: 27612322), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
TP53 Y126S missense unknown TP53 Y126S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y126S demonstrates a loss of transcriptional activity in a yeast assay (PMID: 11429705), but has not been characterized in human cells and therefore, its effect on Tp53 protein function is unknown.
TP53 Y163H missense unknown TP53 Y163H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y163H has been identified in the scientific literature (PMID: 27179933, PMID: 17764544, PMID: 28245875), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Aug 2025).
TP53 Y220D missense unknown TP53 Y220D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220D is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 31990523), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Y220H missense unknown TP53 Y220H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220H is predicted to result in decreased Tp53 stability and activity based on computer modeling (PMID: 31990523, PMID: 39457600), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Y220N missense unknown TP53 Y220N lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220N is predicted to result in decreased Tp53 stability based on computer modeling (PMID: 31990523), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2026).
TP53 Y220S missense unknown TP53 Y220S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y220S is predicted to result in decreased Tp53 stability based on structural modeling (PMID: 31128451), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Sep 2025).
TP53 Y234S missense unknown TP53 Y234S lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). Y234S has been identified in the scientific literature (PMID: 24667986, PMID: 24662767, PMID: 35083778), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Dec 2025).
VHL E70_R79dup duplication unknown VHL E70_R79dup indicates the insertion of ten duplicate amino acids, glutamic acid (E)-70 through arginine (R)-79, in the Vhl protein (UniProt.org). E70_R79dup has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Sep 2025).
VHL G29D missense unknown VHL G29D within the pentameric repeat region of the Vhl protein (UniProt.org). G29D has been identified in sequencing studies (PMID: 22895193) but has not been biochemically characterized and therefore, its effect on VHL protein function is unknown (PubMed, Sep 2025).
VHL G39D missense unknown VHL G39D lies within the pentameric repeat region of the Vhl protein (UniProt.org). G39D has been identified in the scientific literature (PMID: 23558940), but has not been biochemically characterized and therefore, its effect on VHL protein function is unknown (PubMed, Sep 2025).
VHL I75_C77del deletion unknown VHL I75_C77del results in the deletion of three amino acids of the Vhl protein from amino acids 75 to 77 (UniProt.org). I75_C77del has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, May 2026).
VHL L89H missense loss of function - predicted VHL L89H does not lie within any known functional domains of the Vhl protein (UniProt.org). L89H results in increased expression of Hif1a under both normoxic and hypoxic conditions in cultured cells (PMID: 32234874) and is associated with increased SALL4 gene expression in cell culture (PMID: 32513235), and therefore, is predicted to lead to a loss of Vhl protein function.
VHL P25L missense unknown VHL P25L lies within the pentameric repeat region of the Vhl protein (UniProt.org). P25L has been identified in the scientific literature (PMID: 16884327, PMID: 25803323, PMID: 24727139), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Sep 2025).
VHL P25S missense unknown VHL P25S lies within the pentameric repeat region of the Vhl protein (UniProt.org). P25S has been identified in the scientific literature (PMID: 22655276), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Sep 2025).
VHL Q73E missense no effect - predicted VHL Q73E does not lie within any known functional domains of the Vhl1 protein (UniProt.org). Q73E results in cellular fitness similar to neutral variants in a high-throughput cell culture assay (PMID: 38969834), and therefore, is predicted to have no effect on Vhl protein function.
VHL R108del deletion unknown VHL R108del results in the deletion of an amino acid in the CCT complex-binding region of the Vhl protein at amino acid 108 (UniProt.org). R108del has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Sep 2025).
VHL R79_S80del deletion unknown VHL R79_S80del results in the deletion of two amino acids of the Vhl protein from amino acids 79 to 80 (UniProt.org). R79_S80del has been identified in sequencing studies (PMID: 25867206), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Mar 2026).
VHL S111P missense unknown VHL S111P lies within the CCT complex-binding region of the Vhl protein (UniProt.org). S111P has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Sep 2025).
VHL S38F missense unknown VHL S38F lies within the pentameric repeat region of the Vhl protein (UniProt.org). S38F has been identified in sequencing studies (PMID: 15932632), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Sep 2025).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References