Gene Detail

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Variant	Impact	Protein Effect	Variant Description	Associated with drug Resistance
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, Jun 2024).
A502_Y503dup	duplication	gain of function	KIT A502_Y503dup (also referred to as Y503_F504insAY) indicates the insertion of 2 duplicate amino acids, alanine (A)-502 through tyrosine (Y)-503, in the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). A502_Y503dup results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 15790786, PMID: 19865100).
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, Jul 2024).
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, Nov 2024).
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, Jun 2024).
A829P	missense	gain of function	KIT A829P lies within the protein kinase domain of the Kit protein (UniProt.org). A829P results in constitutive phosphorylation of Kit, activation of Akt and Erk signaling, and confers acquired resistance to imatinib in culture (PMID: 23582185).	Y
act mut	unknown	gain of function	KIT act mut indicates that this variant results in a gain of function in the Kit protein. However, the specific amino acid change has not been identified.
amp	none	no effect	KIT amp indicates an increased number of copies of the KIT gene. However, the mechanism causing the increase is unspecified.
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, Jun 2024).
C443Y	missense	gain of function - predicted	KIT C443Y lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). C443Y results in constitutive ligand-independent activation of Kit in cell culture (PMID: 19865100), and therefore, is predicted to lead to a gain of Kit protein function.
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, Nov 2024).	Y
D419del	deletion	unknown	KIT D419del results in the deletion of an amino acid in Ig-like C2-type domain 5 of the Kit protein at amino acid 419 (UniProt.org). The functional effect of D419del is conflicting, as D419del has been reported to result in ligand-independent phosphorylation of Kit (PMID: 16143141, PMID: 15618474), and to result in lack of Kit phosphorylation and lack of cytokine-independent growth in cell culture (PMID: 31182436), and leads to Kit inactivation in response to Ptpre similar to wild-type Kit in cultured cells (PMID: 33732906).
D419G	missense	no effect - predicted	KIT D419G lies within Ig-like C2-type domain 5 of the Kit protein (UniProt.org). D419G does not result in Kit phosphorylation and is not transforming in cultured cells (PMID: 31182436), and therefore, is predicted to have no effect on Kit protein function.
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, Jun 2024).
D572A	missense	gain of function - predicted	KIT D572A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). D572A results in ligand-independent phosphorylation of Kit in cell culture (PMID: 19865100), and therefore, is predicted to lead to a gain of Kit protein function.
D572G	missense	gain of function	KIT D572G lies within the cytoplasmic domain of the Kit protein (UniProt.org). D572G confers a gain of function to the Kit protein as indicated by increased JAK/STAT and NF-kappaB signaling in an in vitro assay (PMID: 29464843).
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, Jun 2024).
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, Jun 2024).
D579del	deletion	gain of function	KIT D579del results in a deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 579 (PMID: 9797363). D579del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, transformation of cultured cells and tumor formation in mice (PMID: 9797363).
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, Nov 2024).
D60N	missense	unknown	KIT D60N lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). The functional effect of D60N is conflicting, as it results in activation of Jak-Stat signaling and increased proliferation, but also reduced ligand binding to Kit and decreased Akt and Erk signaling in culture (PMID: 24211109).
D677N	missense	unknown	KIT D677N lies within the protein kinase domain of the Kit protein (UniProt.org). D677N is associated with drug resistance when in the context of an activating KIT mutation (PMID: 31270078), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).	Y
D816A	missense	unknown	KIT D816A lies within the protein kinase domain of the Kit protein (UniProt.org). D816A has been identified in the scientific literature (PMID: 22847983) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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) but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
D816F	missense	gain of function	KIT D816F lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816F results in constitutive phosphorylation of Kit and activation of Stat3, Mapk, and Akt signaling in cultured cells (PMID: 9990072, PMID: 16397263), and also confers resistance to imatinib in culture (PMID: 16397263).	Y
D816G	missense	gain of function	KIT D816G lies within the protein kinase domain of the Kit protein (UniProt.org). D816G results in constitutive phosphorylation of Kit, is transforming in culture, and confers resistance to crizotinib (PMID: 27068398).
D816H	missense	gain of function	KIT D816H lies within the tyrosine kinase domain region 2 (exon 17) of the Kit protein (PMID: 19164557). D816H results in increased kinase activity, constitutive Kit phosphorylation, activation of Stat3 signaling, and transformation of cultured cells (PMID: 10362788, PMID: 11494148), and confers resistance to some Kit inhibitors (PMID: 25239608).	Y
D816I	missense	gain of function	KIT D816I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). D816I results in constitutive phosphorylation of Kit, increased phosphorylation of Gsk3beta, activation of Stat pathways, and is transforming in cell culture (PMID: 19865100, PMID: 20484085).
D816N	missense	gain of function	KIT D816N lies within the protein kinase domain of the Kit protein (UniProt.org). D816N results in constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 11378569).
D816V	missense	gain of function	KIT D816V lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 19865100). D816V results in constitutive phosphorylation of Kit, activation of Stat5 signaling (PMID: 19865100, PMID: 18390729), induces mastocytosis and tumor formation in mice (PMID: 21148330) and confers resistance to Kit inhibitors (PMID: 22301675, PMID: 19164557).	Y
D816X	missense	unknown	KIT D816X indicates any Kit missense mutation that results in the replacement of the aspartic acid (D) at amino acid 816 by a different amino acid.
D816Y	missense	gain of function	KIT D816Y lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 21640708). D816Y results in constitutive phosphorylation of Kit, activation of Akt and Mapk pathways in cultured cells (PMID: 21640708, PMID: 16397263), and confers resistance to imatinib in culture (PMID: 16397263).	Y
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, Nov 2024).
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
D820E	missense	unknown	KIT D820E lies within the protein kinase domain of the Kit protein (UniProt.org). D820E has been associated with secondary drug resistance (PMID: 19861442), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).	Y
D820G	missense	unknown	KIT D820G lies within the protein kinase domain of the Kit protein (UniProt.org). D820G has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).	Y
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, Nov 2024).
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, Nov 2024).	Y
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, Nov 2024).	Y
D820Y	missense	gain of function	KIT D820Y lies within the protein kinase domain of the Kit protein (UniProt.org). D820Y results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 19035443, PMID: 11984533), and has also been identified as a secondary drug mutation associated with imatinib resistance (PMID: 18488160).	Y
E228*	nonsense	loss of function - predicted	KIT E228* results in a premature truncation of the Kit protein at amino acid 228 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E228* is predicted to lead to a loss of Kit protein function.
E249*	nonsense	loss of function - predicted	KIT E249* results in a premature truncation of the Kit protein at amino acid 249 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E249* is predicted to lead to a loss of Kit protein function.
E306*	nonsense	loss of function - predicted	KIT E306* results in a premature truncation of the Kit protein at amino acid 306 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E306* is predicted to lead to a loss of Kit protein function.
E490*	nonsense	loss of function - predicted	KIT E490* results in a premature truncation of the Kit protein at amino acid 490 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E490* is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
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, Nov 2024).
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), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
E554_D572delinsA	indel	gain of function - predicted	KIT E554_D572delinsA results in a deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 572, combined with the insertion of an alanine (A) at the same site (PMID: 16226710). E554_D572delinsA 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.
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.
E554_Y570del	deletion	gain of function - predicted	KIT E554_Y570del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 570 (PMID: 16226710). E554_Y570del 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.
E561fs	frameshift	loss of function - predicted	KIT E561fs results in a change in the amino acid sequence of the Kit protein beginning at aa 561 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E561fs is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
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, Nov 2024).
E562_L576del	deletion	gain of function - predicted	KIT E562_L576del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 562 to 576 (PMID: 16226710). E562_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.
E695*	nonsense	loss of function - predicted	KIT E695* results in a premature truncation of the Kit protein at amino acid 695 of 976 (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), E695* is predicted to lead to a loss of Kit protein function.
E839K	missense	loss of function	KIT E839K lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). E839K results in impaired Kit protein maturation, a loss of Kit phosphorylation, and dominant inhibition of activating Kit mutations in cultured cells (PMID: 9990072, PMID: 15790786).
exon 11 del	deletion	gain of function	KIT exon 11 deletions are in-frame deletions within the juxtamembrane domain of the Kit protein (PMID: 26349547). KIT exon 11 deletions are associated with constitutive activation of Kit (PMID: 9438854, PMID: 15365079).
exon 9 ins	indel	unknown	KIT exon 9 insertions are in-frame insertions within the Ig-like C2-type domain 5 of Kit (UniProt.org).
exon11	unknown	unknown	KIT exon 11 (amino acids 550-592) indicates an unspecified mutation within the juxtamembrane domain has occurred in exon 11 of the KIT gene.
exon13	unknown	unknown	KIT exon 13 (amino acids 627-664) indicates an unspecified mutation has occurred in exon 13 of the KIT gene.
exon14	unknown	unknown	KIT exon 14 (amino acids 664-713) indicates an unspecified mutation has occurred in exon 14 of the KIT gene.
exon17	unknown	unknown	KIT exon 17 (amino acids 788-828) indicates an unspecified mutation has occurred in exon 17 of the KIT gene.
exon18	unknown	unknown	KIT exon 18 (amino acids 829-866) indicates an unspecified mutation has occurred in exon 18 of the KIT gene.
exon8	unknown	unknown	KIT exon 8 (amino acids 411-449) indicates an unspecified mutation has occurred in exon 8 of the KIT gene.
exon9	unknown	unknown	KIT exon 9 (amino acids 449-514) indicates an unspecified mutation has occurred in exon 9 of the KIT gene.
F522C	missense	gain of function - predicted	KIT F522C lies within the transmembrane domain of the Kit protein (PMID: 15070706). F522C results in ligand independent autophosphorylation of Kit in cell culture (PMID: 15070706), and therefore, is predicted to lead to a gain of Kit protein function.
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, Nov 2024).
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, Nov 2024).
fusion	fusion	unknown	KIT fusion indicates a fusion of the KIT gene, but the fusion partner is unknown.
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
G51D	missense	unknown	KIT G51D lies within Ig-like C2-type domain 1 of the Kit protein (UniProt.org). G51D has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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.
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, Nov 2024).
G565_T574delinsA	indel	gain of function - predicted	KIT G565_T574delinsA results in a deletion of ten amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 565 to 574, combined with the insertion of an alanine (A) at the same site (PMID: 16226710). G565_T574delinsA has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a loss of Kit protein function.
G664R	missense	loss of function	KIT G664R lies within the protein kinase domain of the Kit protein (UniProt.org). G664R results in a loss of Kit autophosphorylation, reduced phosphorylation upon ligand stimulation as compared to wild-type Kit in cell culture, and decreased downstream signaling, as demonstrated by reduced phosphorylation of Erk1/2 in patient samples (PMID: 20824047).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
H697Y	missense	gain of function - predicted	KIT H697Y lies within the protein kinase domain of the Kit protein (UniProt.org). H697Y is transforming in cultured cells (PMID: 19861435), and therefore, is predicted to lead to a gain of Kit protein function.
I371S	missense	no effect - predicted	KIT I371S lies within Ig-like C2-type domain 4 of the Kit protein (UniProt.org). I371S results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
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.
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, Nov 2024).
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 2024).
I571_L576del	deletion	gain of function - predicted	KIT I571_L576del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 571 to 576 (PMID: 16226710). I571_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.
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, Nov 2024).
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, Nov 2024).	Y
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, Nov 2024).
K509I	missense	gain of function	KIT K509I lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509I results in constitutive phosphorylation of Kit, increased cell proliferation, and growth factor independent survival in cell culture (PMID: 19865100).
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, Nov 2024).
K550_E554del	deletion	gain of function - predicted	KIT K550_E554del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 554 (PMID: 16226710). K550_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.
K550_K558del	deletion	gain of function	KIT K550_K558del results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 558 (PMID: 15824741). K550_K558del results in constitutive phosphorylation of Kit, transformation of cultured cells, and tumor formation in animal models (PMID: 9438854).
K550_P551del	deletion	gain of function - predicted	KIT K550_P551del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 551 (PMID: 16226710). K550_P551del 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.
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.
K550_V555delinsI	indel	gain of function - predicted	KIT K550_V555delinsI results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 555, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). K550_V555delinsI 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.
K550_V559del	deletion	gain of function - predicted	KIT K550_V559del results in the deletion of ten amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 550 to 559 (PMID: 16226710). K550_V559del 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.
K558*	nonsense	loss of function - predicted	KIT K558* results in a premature truncation of the Kit protein at amino acid 558 of 976 (UniProt.org). Due to the loss of protein kinase domain (UniProt.org), K558* is predicted to lead to a loss of Kit protein function.
K558delinsNP	indel	unknown	KIT K558delinsNP results in a deletion of lysine (K) at amino acid 558 within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of an asparagine (N) and a proline (P) at the same location (PMID: 16226710). K558delinsNP has been identified in the scientific literature (PMID: 11526490, PMID: 25239608, PMID: 20651400), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
K558R	missense	unknown	KIT K558R lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). K558R has been identified in sequencing studies (PMID: 21569090), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
K558_D572del	deletion	gain of function - predicted	KIT K558_D572del results in the deletion of fifteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 572 (PMID: 16226710). K558_D572del 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.
K558_E562del	deletion	gain of function - predicted	KIT K558_E562del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 562 (PMID: 12879016). K558_E562del 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.
K558_G565delinsR	indel	gain of function - predicted	KIT K558_G565delinsR results in a deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 565, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_G565delinsR results in constitutive phosphorylation of Kit in patient-derived xenograft (PDX) models (PMID: 25926077), and therefore, is predicted to lead to a gain of Kit protein function.
K558_N564del	deletion	gain of function - predicted	KIT K558_N564del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 564 (PMID: 16226710). K558_N564del 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.
K558_V559del	deletion	gain of function - predicted	KIT K558_V559del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 559 (PMID: 16226710). K558_V559del 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.
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
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, Nov 2024).
K558_V560del	deletion	gain of function - predicted	KIT K558_V560del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 560 (PMID: 16226710). K558_V560del 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.
K558_V560delinsN	indel	gain of function - predicted	KIT K558_V560delinsN results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 560, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_V560delinsN 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.
K558_Y570delinsN	indel	gain of function - predicted	KIT K558_Y570delinsN results in a deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an asparagine (N) at the same site (PMID: 16226710). K558_Y570delinsN 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.
K558_Y570delinsNP	indel	gain of function - predicted	KIT K558_Y570delinsNP results in a deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an asparagine (N) and a proline (P) at the same site (PMID: 16226710). K558_Y570delinsNP 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.
K558_Y570delinsR	indel	gain of function - predicted	KIT K558_Y570delinsR results in the deletion of thirteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 570, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_Y570delinsR 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.
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, Nov 2024).
K623M	missense	loss of function	KIT K623M lies within the protein kinase domain of the Kit protein (UniProt.org). K623M results in a loss of Kit autophosphorylation, reduced phosphorylation upon ligand stimulation as compared to wild-type Kit, and decreased downstream signaling, as demonstrated by reduced phosphorylation of Erk1/2 in cell culture (PMID: 20824047).
K642E	missense	gain of function	KIT K642E lies within the tyrosine kinase domain 1 (exon 13) of the Kit protein (PMID: 15990278). K642E results in constitutive phosphorylation of Kit and activation of downstream signaling (PMID: 15990278, PMID: 19802003), as well as transformation of cultured cells (PMID: 11073817).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
L117I	missense	no effect - predicted	KIT L117I lies within the extracellular domain of the Kit protein (UniProt.org). L117I results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
L416fs	frameshift	loss of function - predicted	KIT L416fs results in a change in the amino acid sequence of the Kit protein beginning at aa 416 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), L416fs is predicted to lead to a loss of Kit protein function.
L576del	deletion	gain of function - predicted	KIT L576del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 576 (PMID: 9797363). 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.
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, Nov 2024).
L576P	missense	gain of function	KIT L576P lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576P confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit, and is transforming in cell culture (PMID: 17372901).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
L859F	missense	unknown	KIT L859F lies within the protein kinase domain of the Kit protein (UniProt.org). L859F has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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, Nov 2024).
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, Oct 2024).
M537L	missense	unknown	KIT M537L (corresponds to M541L in the canonical isoform) lies within the transmembrane domain of the Kit protein (PMID: 16226710). M537L (M541L) is a common polymorphism that has been demonstrated to increase proliferation in the presence of ligand compared to wild-type Kit in culture (PMID: 18795925), but is not associated with tumorigenesis in the population (PMID: 16307017, PMID: 21757432), and therefore, its effect on Kit protein function is unknown.
M541L	missense	unknown	KIT M541L lies within the transmembrane domain of the Kit protein (PMID: 16226710). M541L is a common polymorphism that has been demonstrated to increase proliferation in the presence of ligand compared to wild-type Kit in culture (PMID: 18795925), but is not associated with tumorigenesis in the population (PMID: 16307017, PMID: 21757432), and therefore, its effect on Kit protein function is unknown.
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, Nov 2024).
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, Nov 2024).
M552_D572del	deletion	gain of function - predicted	KIT M552_D572del results in the deletion of 21 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 572 (PMID: 16226710). M552_D572del 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.
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.
M552_E554delinsI	indel	gain of function - predicted	KIT M552_E554delinsI results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_E554delinsI 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.
M552_E554delinsK	indel	gain of function - predicted	KIT M552_E554delinsK results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554, combined with the insertion of a lysine (K) at the same site (PMID: 16226710). M552_E554delinsK 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.
M552_K558del	deletion	gain of function - predicted	KIT M552_K558del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 558 (PMID: 16226710). M552_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.
M552_Q556del	deletion	gain of function - predicted	KIT M552_Q556del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 556 (PMID: 16226710). M552_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.
M552_V555del	deletion	gain of function - predicted	KIT M552_V555del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 555 (PMID: 16226710). M552_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.
M552_V555delinsI	indel	gain of function - predicted	KIT M552_V555delinsI results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 555, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_V555delinsI 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.
M552_V559del	deletion	gain of function - predicted	KIT M552_V559del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 559 (PMID: 16226710). M552_V559del results in constitutive Kit phosphorylation in cell culture (PMID: 20633291), and therefore, is predicted to lead to a gain of Kit protein function.
M552_V559delinsI	indel	gain of function - predicted	KIT M552_V559delinsI results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 559, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_V559delinsI 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.
M552_W557del	deletion	gain of function - predicted	KIT M552_W557del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 and 557 (PMID: 16226710). M552_W557del 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.
M552_Y553del	deletion	gain of function - predicted	KIT M552_Y553del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 553 (PMID: 16226710). M552_Y553del 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.
M552_Y570del	deletion	gain of function - predicted	KIT M552_Y570del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 570 (PMID: 16226710). M552_Y570del 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.
M722V	missense	no effect - predicted	KIT M722V lies within the protein kinase domain of the Kit protein (UniProt.org). M722V results in activation of JAK/STAT and NF-kappaB signaling similar to wild-type Kit in an in vitro assay (PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
mutant	unknown	unknown	KIT mutant indicates an unspecified mutation in the KIT gene.
N320fs	frameshift	loss of function - predicted	KIT N320fs results in a change in the amino acid sequence of the Kit protein beginning at aa 320 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), N320fs is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
N505I	missense	gain of function	KIT N505I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). N505I results in constitutive phosphorylation of Kit, activation of downstream Akt and Erk, and is transforming in cell culture (PMID: 24317392).
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.
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.
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.
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, Nov 2024).
N566_P573del	deletion	gain of function - predicted	KIT N566_P573del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 566 to 573 (PMID: 16226710). N566_P573del 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.
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, Nov 2024).
N567_P573del	deletion	gain of function - predicted	KIT N567_P573del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 567 to 573 (PMID: 16226710). N567_P573del 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 .
N655K	missense	gain of function - predicted	KIT N655K lies within tyrosine kinase domain 1 (exon 13) of the Kit protein (PMID: 17555444). N655K results in constitutive phosphorylation of Kit in cell culture (PMID: 17489795), and therefore, is predicted to lead to a gain of Kit protein function.
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, Nov 2024).
N822D	missense	unknown	KIT N822D lies within the protein kinase domain of the Kit protein (UniProt.org). N822D has been identified in the scientific literature (PMID: 35091442, PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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, Nov 2024).
N822I	missense	gain of function	KIT N822I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). N822I results in constitutive Kit phosphorylation, is transforming in cell culture, and confers resistance to imatinib (PMID: 21689725).	Y
N822K	missense	gain of function	KIT N822K lies within the activation loop in the protein kinase domain of the Kit protein (PMID: 24205792). N822K results in constitutive activation of Kit, increased Erk1/2 and Stat3 phosphorylation, is transforming in culture (PMID: 24205792, PMID: 31484543), leads to mislocalization of Kit to endolysosomes (PMID: 31484543), and has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160).	Y
N822Y	missense	gain of function - predicted	KIT N822Y lies within the protein kinase domain of the Kit protein (UniProt.org). N822Y results in constitutive phosphorylation of Kit in culture (PMID: 30094412), and therefore, is predicted to lead to a gain of Kit protein function.
negative	unknown	loss of function	KIT negative indicates a lack of expression of the KIT mRNA and/or protein.
over exp	none	no effect	KIT over exp indicates an over expression of the KIT protein. However, the mechanism causing the over expression is unspecified.
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
P551_E554del	deletion	gain of function - predicted	KIT P551_E554del results in the deletion of 4 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 554 (PMID: 16226710). P551_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.
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.
P551_K558del	deletion	gain of function - predicted	KIT P551_K558del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 558 (PMID: 16226710). P551_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.
P551_K558delinsQ	indel	gain of function - predicted	KIT P551_K558delinsQ results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 558, combined with the insertion of a glutamine (Q) at the same site (PMID: 16226710). P551_K558delinsQ 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.
P551_M552delinsL	indel	gain of function - predicted	KIT P551_M552delinsL results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 552, combined with the insertion of a leucine (L) at the same site (PMID: 16226710). P551_M552delinsL 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.
P551_Q556del	deletion	gain of function - predicted	KIT P551_Q556del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 556 (PMID: 16226710). P551_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.
P551_V555del	deletion	gain of function	KIT P551_V555del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 555 (PMID: 9438854). P551_V555del confers a gain of function on Kit, as indicated by constitutive Kit phosphorylation, and is transforming in cell culture (PMID: 9438854).
P551_V555delinsTL	indel	gain of function - predicted	KIT P551_V555delinsTL results in a deletion of five amino acids within the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 555, combined with the insertion of a threonine (T) and a leucine (L) at the same site (PMID: 12879016). P551_V555delinsTL 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.
P551_W557delinsL	indel	gain of function - predicted	KIT P551_W557delinsL results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 557, combined with the insertion of a leucine (L) in the same site (PMID: 16226710). P551_W557delinsL 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.
P551_Y553delinsH	indel	gain of function - predicted	KIT P551_Y553delinsH results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 553, combined with the insertion of a histidine (H) at the same site (PMID: 16226710). P551_Y553delinsH 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.
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, Nov 2024).
P577del	deletion	gain of function - predicted	KIT P577del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 577 (PMID: 16226710). P577del has not been characterized, however other Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
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, Nov 2024).
P577_D579del	deletion	gain of function - predicted	KIT P577_D579del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 577 to 579 (PMID: 16226710). P577_D579del 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 .
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 2024).
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 2024).
P754fs	frameshift	loss of function - predicted	KIT P754fs results in a change in the amino acid sequence of the Kit protein beginning at aa 754 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to disruption of the protein kinase domain (UniProt.org), P754fs is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
P838S	missense	no effect - predicted	KIT P838S lies within the protein kinase domain of the Kit protein (UniProt.org). P838S results in activation of JAK/STAT and NFkappaB signaling similar to wild-type Kit in an in vitro assay (PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
P874L	missense	unknown	KIT P874L lies within the protein kinase domain of the Kit protein (UniProt.org). P874L corresponds to P875L in an alternate isoform, which results in similar levels of autophosphorylation but decreased transformation relative to wild-type in culture (PMID: 30926633), and therefore, its effect on Kit protein function is unknown.
P875L	missense	unknown	KIT P875L (corresponds to P874L in the canonical isoform) lies within the protein kinase domain of the Kit protein (UniProt.org). P875L results in similar levels of autophosphorylation but decreased transformation relative to wild-type in culture (PMID: 30926633), and therefore, its effect on Kit protein function is unknown.
positive	unknown	unknown	KIT positive indicates the presence of the KIT gene, mRNA, and/or protein.
Q556_D572del	deletion	gain of function - predicted	KIT Q556_D572del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 572 (PMID: 16226710). Q556_D572del 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.
Q556_I571del	deletion	gain of function - predicted	KIT Q556_I571del results in the deletion of sixteen amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 571 (PMID: 16226710). Q556_I571del 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.
Q556_K558del	deletion	gain of function - predicted	KIT Q556_K558del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 558 (PMID: 16226710). Q556_K558del results in constitutive phosphorylation of Kit in culture (PMID: 30094412), and therefore, is predicted to lead to a gain of Kit protein function.
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.
Q556_L576del	deletion	gain of function - predicted	KIT Q556_L576del results in the deletion of 21 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 576 (PMID: 16226710). Q556_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.
Q556_V559del	deletion	gain of function - predicted	KIT Q556_V559del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559 (PMID: 16226710). Q556_V559del 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.
Q556_V559delinsH	indel	gain of function - predicted	KIT Q556_V559delinsH results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559, combined with the insertion of a histidine (H) at the same site (PMID: 16226710). Q556_V559delinsH 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.
Q556_V559delinsHT	indel	gain of function - predicted	KIT Q556_V559delinsHT results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 559, combined with the insertion of a histidine (H) and threonine (T) at the same site (PMID: 16226710). Q556_V559delinsHT 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.
Q556_V560del	deletion	gain of function - predicted	KIT Q556_V560del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 560 (PMID: 16226710). Q556_V560del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 9797363), and therefore, is predicted to lead to a gain of Kit protein function.
Q556_V560delinsH	indel	gain of function - predicted	KIT Q556_V560delinsH results in a deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 560, combined with the insertion of a histidine (H) at the same site (PMID: 16226710). Q556_V560delinsH 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.
Q556_W557del	deletion	gain of function - predicted	KIT Q556_W557del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 557 (PMID: 16226710). Q556_W557del 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.
Q575del	deletion	gain of function - predicted	KIT Q575del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acids 575 (PMID: 16226710). Q575del 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.
R135H	missense	no effect - predicted	KIT R135H lies within Ig-like C2-type domain 2 of the Kit protein (UniProt.org). R135H results in SCF-induced Kit activation similar to wild-type protein in culture (PMID: 23020152), and therefore, is predicted to have no effect on Kit protein function.
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, Nov 2024).
R634W	missense	gain of function	KIT R634W lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). R634W confers a gain of function to the Kit protein as demonstrated by constitutive Kit phosphorylation, increased Stat3 and Stat5 phosphorylation, and is transforming in cell culture (PMID: 15790786).
R686C	missense	loss of function - predicted	KIT R686C lies within the protein kinase domain of the Kit protein (UniProt.org). R686C results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function.
R796G	missense	loss of function	KIT R796G lies within the protein kinase domain of the Kit protein (UniProt.org). R796G confers a loss of function on Kit as indicated by lack of autophosphorylation, loss of ligand-induced phosphorylation of Kit in cultured cells (PMID: 20824047).
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, Nov 2024).
R888Q	missense	loss of function - predicted	KIT R888Q lies within the protein kinase domain of the Kit protein (UniProt.org). R888Q results in decreased SCF-induced Kit activation in culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
rearrange	unknown	unknown	KIT rearrangement indicates an unspecified rearrangement of the KIT gene.
S197*	nonsense	loss of function - predicted	KIT S197* results in a premature truncation of the Kit protein at amino acid 197 of 976 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), S197* is predicted to lead to a loss of Kit protein function.
S476I	missense	gain of function	KIT S476I lies within the Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). S476I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 19865100, PMID: 30094412).
S501_A502dup	duplication	gain of function - predicted	KIT S501_A502dup (also referred to as A502_Y503insSA) indicates the insertion of two duplicate amino acids, serine (S)-501 through alanine (A)-502, in Ig-like C2-type domain 5 of the Kit protein (UniProt.org). S501_A502dup results in constitutive phosphorylation of Kit in primary and cultured cells (PMID: 22324351), and therefore, is predicted to lead to a gain of Kit protein function.
S501_A502insSAY	insertion	gain of function - predicted	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, however similar Kit exon 9 mutations are activating (PMID: 22324351), and therefore, is predicted to lead to a gain of Kit protein function.
S628N	missense	gain of function	KIT S628N lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). S628N results in constitutive Kit phosphorylation and activation of downstream Stat3, Akt and Erk1/2, and is transforming in cell culture (PMID: 25317746).
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 2024).	Y
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
T274M	missense	loss of function - predicted	KIT T274M lies within Ig-like C2-type domain 3 of the Kit protein (UniProt.org). T274M results in reduced Kit activation by SCF in cell culture (PMID: 23020152), and therefore, is predicted to lead to a loss of Kit protein function.
T417_D419delinsI	indel	gain of function - predicted	KIT T417_D419delinsI results in the deletion of three amino acids in Ig-like C2-type domain 5 of the Kit protein from amino acids 417 to 419, combined with the insertion of an isoleucine (I) at the same site (UniProt.org). T417_D419delinsI results in constitutive ligand-independent phosphorylation of Kit in cell culture (PMID: 16015387), and therefore, is predicted to lead to a gain of Kit protein function.
T417_D419delinsRA	indel	gain of function - predicted	KIT T417_D419delinsRA results in the deletion of three amino acids in the extracellular domain of the Kit protein from amino acids 417 to 419, combined with the insertion of an arginine (R) and an alanine (A) at the same site (UniProt.org). T417_D419delinsRA has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function.
T417_D419delinsY	indel	gain of function	KIT T417_D419delinsY results in the deletion of three amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 419, combined with the insertion of a tyrosine (Y) at the same site (UniProt.org). T417_D419delinsY results in constitutive phosphorylation of Kit (PMID: 16015387), activation of Akt and Stat pathways, and is transforming in culture (PMID: 20484085).
T417_Y418delinsH	indel	gain of function - predicted	KIT T417_Y418delinsH results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 417 to 418, combined with the insertion of a histidine (H) at the same site (UniProt.org). T417_Y418delinsH has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function.
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 2024).
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
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, Nov 2024).	Y
T670A	missense	unknown	KIT T670A lies within the protein kinase domains of the Kit protein (UniProt.org). T670A results in weak phosphorylation of the Kit protein when present with KIT V559del in cultured cells (PMID: 19176456), but has not been individually characterized and therefore, its effect on Kit protein function is unknown.
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, Nov 2024).
T670I	missense	gain of function	KIT T670I lies within the ATP pocket in the protein kinase domain of the Kit protein (PMID: 15236194, PMID: 22355224). T670I confers a gain of function on Kit as indicated by constitutive Kit phosphorylation, is transforming in cultured cells, and is associated with resistance to Kit inhibitors (PMID: 17699867, PMID: 15236194).	Y
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
V530I	missense	gain of function	KIT V530I lies within the transmembrane domain of the Kit protein (PMID: 16081693). V530I confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit and activation of Akt, Mapk, Stat3, and Stat5 in cell culture (PMID: 16081693).
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, Nov 2024).
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, Nov 2024).
V555_D572del	deletion	gain of function - predicted	KIT V555_D572del results in the deletion of 18 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 572 (PMID: 16226710). V555_D572del 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.
V555_E562del	deletion	gain of function - predicted	KIT V555_E562del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 562 (PMID: 16226710). V555_E562del 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.
V555_I571del	deletion	gain of function - predicted	KIT V555_I571del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 571 (PMID: 16226710). V555_I571del 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.
V555_L576del	deletion	gain of function - predicted	KIT V555_L576del results in the deletion of 22 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 576 (PMID: 16226710). V555_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.
V555_P573del	deletion	gain of function - predicted	KIT V555_P573del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 573 (PMID: 16226710). V555_P573del 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.
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.
V555_V560del	deletion	gain of function - predicted	KIT V555_V560del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 555 to 560 (PMID: 16226710). V555_V560del 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.
V559A	missense	gain of function	KIT V559A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 15837988). V559A results in constitutive phosphorylation of Kit and increased Mapk and Akt activation in patient samples and cultured cells (PMID: 15837988, PMID: 19047099).
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, Nov 2024).
V559D	missense	gain of function	KIT V559D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V559D confers a gain of function on Kit, as indicated by constitutive Kit phosphorylation, and is transforming in cell culture (PMID: 9438854, PMID: 21689725).
V559fs	frameshift	loss of function - predicted	KIT V559fs results in a change in the amino acid sequence of the Kit protein beginning at aa 559 of 976, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), V559fs is predicted to lead to a loss of Kit protein function.
V559G	missense	unknown	KIT V559G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V559G results in constitutive phosphorylation of Kit in a patient sample (PMID: 15897563), but has not been fully biochemically characterized and therefore, its effect on Kit protein function is unknown.
V559I	missense	gain of function	KIT V559I lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17259998). V559I confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and increased phosphorylation of Stat1 and Mapk in cell culture (PMID: 17259998).
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, Nov 2024).
V559X	missense	unknown	KIT V559X indicates any Kit missense mutation that results in the replacement of the valine (V) at amino acid 559 by a different amino acid.
V559_E561del	deletion	gain of function - predicted	KIT V559_E561del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 561 (PMID: 12879016). V559_E561del 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.
V559_G565del	deletion	gain of function - predicted	KIT V559_G565del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 565 (PMID: 12879016). V559_G565del 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.
V559_N566delinsD	indel	gain of function - predicted	KIT V559_N566delinsD results in a deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 566, combined with the insertion of an aspartic acid (D) at the same site (PMID: 16226710). V559_N566delinsD 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.
V559_P573del	deletion	gain of function - predicted	KIT V559_P573del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 573 (PMID: 16226710). V559_P573del 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.
V559_T574del	deletion	gain of function - predicted	KIT V559_T574del results in the deletion of 16 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 574 (PMID: 16226710). V559_T574del 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.
V559_V560del	deletion	gain of function	KIT V559_V560del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 560 (UniProt.org). V559_V560del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in mice (PMID: 9797363).
V559_V560delinsS	indel	gain of function - predicted	KIT V559_V560delinsS results in a deletion of two amino acids within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of a serine (S) at the same site (PMID: 16226710). V559_V560delinsS 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.
V560A	missense	gain of function - predicted	KIT V560A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V560A results in increased autophosphorylation of Kit in cultured cells (PMID: 10224103), and therefore, is predicted to lead to a gain of Kit protein function.
V560D	missense	gain of function	KIT V560D lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 19164557). V560D confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit in cell culture (PMID: 16954519, PMID: 20633291, PMID: 27440273) despite reduced expression, enhanced degradation, and cellular mislocalization (PMID: 27440273).
V560del	deletion	gain of function	KIT V560del (also reported as V559del) results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 560 (PMID: 12879016). V560del confers a gain of function to Kit, resulting in constitutive, ligand independent phosphorylation of Kit and activation of Akt in cell culture (PMID: 15236194, PMID: 22282465), and transformation of cultured cells (PMID: 19861435).
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, Nov 2024).
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), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
V560G	missense	gain of function	KIT V560G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 9438854). V560G confers a gain of function to Kit, as indicated by constitutive phosphorylation of Kit and activation of the Jak/Stat pathway (PMID: 7691885, PMID: 23777495, PMID: 31484543), and leads to mislocalization of Kit to endolysosomes in cell culture (PMID: 31484543).
V560_D572del	deletion	gain of function - predicted	KIT V560_D572del results in the deletion of 13 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 572 (PMID: 16226710). V560_D572del 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.
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.
V560_Y578del	deletion	gain of function - predicted	KIT V560_Y578del results in the deletion of 18 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 578 (PMID: 16226710). V560_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.
V569_L576del	deletion	gain of function - predicted	KIT V569_L576del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 569 and 576 (PMID: 16226710). V569_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.
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, Nov 2024).
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, Nov 2024).
V654A	missense	unknown	KIT V654A lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). V654A has been described as a secondary drug resistance mutation (PMID: 17363509, PMID: 16751810), but has conflicting functional data, as in some studies, results in increased proliferation in cultured cells and in murine cells (corresponding to V653A), leads to increased proliferation and elevated Stat activation in the context of KIT V559del (corresponding to V558del in mouse) in culture (PMID: 33024275), is constitutively phosphorylated in culture (PMID: 27440273), but in another study is not transforming and does not result in constitutive activation (PMID: 17363509), and therefore, its effect on Kit protein function is unknown.	Y
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, Nov 2024).	Y
V654X	missense	unknown	KIT V654X indicates any KIT missense mutation that results in the replacement of the valine (V) at amino acid 654 by a different amino acid.
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 the RUNX1-ETO fusion (PMID: 24897507), but has not been characterized individually and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
V852I	missense	no effect - predicted	KIT V852I lies within the protein kinase domain of the Kit protein (UniProt.org). V852I results in activation of JAK/STAT and NF-kappaB signaling similar to wild-type Kit in an in vitro assay (PMID: 29464843), and therefore, is predicted to have no effect on Kit protein function.
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, Nov 2024).
W557del	deletion	gain of function - predicted	KIT W557del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acids 557 (PMID: 12918066). W557del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 9797363), and therefore, is predicted to lead to a gain of Kit protein function .
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, Nov 2024).
W557G	missense	gain of function - predicted	KIT W557G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557G results in constitutive phosphorylation of Kit in cell culture (PMID: 23567324), and therefore, is predicted to lead to a gain of Kit protein function.
W557Lfs*5	frameshift	loss of function - predicted	KIT W557Lfs5 indicates a shift in the reading frame starting at amino acid 557 and terminating 5 residues downstream causing a premature truncation of the 976 amino acid Kit protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W557Lfs5 is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
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, Nov 2024).
W557_E561del	deletion	gain of function - predicted	KIT W557_E561del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 561 (PMID: 16226710). W557_E561del 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 .
W557_K558del	deletion	gain of function	KIT W557_K558del results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558 (PMID: 12918066). W557_K558del results in constitutive activation of Kit and increased Erk phosphorylation, and leads to increased invasiveness and expression of ETV1 in cell culture (PMID: 25239608, PMID: 26936919).
W557_K558delinsC	indel	gain of function - predicted	KIT W557_K558delinsC results in a deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a cystine (C) at the same site (PMID: 16226710). W557_K558delinsC 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.
W557_K558delinsCE	indel	gain of function - predicted	KIT W557_K558delinsCE results in a deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a cystine (C) and a glutamic acid (E) at the same site (PMID: 16226710). W557_K558delinsCE 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.
W557_K558delinsE	indel	gain of function - predicted	KIT W557_K558delinsE results in a deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a glutamic acid (E) at the same site (PMID: 16226710). W557_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.
W557_K558delinsF	indel	gain of function - predicted	KIT W557_K558delinsF results in a deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558, combined with the insertion of a phenylalanine (F) at the same site (PMID: 16226710). KIT W557_K558delinsF 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.
W557_Q575del	deletion	gain of function - predicted	KIT W557_Q575del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 575 (PMID: 16226710). W557_Q575del 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.
W557_V559del	deletion	gain of function - predicted	KIT W557_V559del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 559 (PMID: 16226710). W557_V559del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 9797363), and therefore, is predicted to lead to a gain of Kit protein function
W557_V559delinsC	indel	gain of function - predicted	KIT W557_V559delinsC 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 cysteine (C) at the same site (PMID: 16226710). W557_V559delinsC 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.
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.
W557_V560del	deletion	gain of function - predicted	KIT W557_V560del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 560 (PMID: 16226710). W557_V560del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 9797363), and therefore, is predicted to lead to a gain of Kit protein function .
W582*	nonsense	loss of function - predicted	KIT W582* results in a premature truncation of the Kit protein at amino acid 582 of 976 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W582* is predicted to lead to a loss of Kit protein function.
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, Nov 2024).
wild-type	none	no effect	Wild-type KIT indicates that no mutation has been detected within the KIT gene.
Y418_D419delinsG	indel	gain of function - predicted	KIT Y418_D419delinsG results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a glycine (G) at the same site (UniProt.org). Y418_D419delinsG has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function.
Y418_D419delinsS	indel	gain of function - predicted	KIT Y418_D419delinsS results in the deletion of two amino acids in the Ig-like C2-type 5 domain of the Kit protein from amino acids 418 to 419, combined with the insertion of a serine (S) at the same site (UniProt.org). Y418_D419delinsS has not been characterized, however similar Kit exon 8 mutations are activating (PMID: 16015387, PMID: 20484085), and therefore, is predicted to lead to a gain of Kit protein function.
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, Nov 2024).
Y553C	missense	unknown	KIT Y553C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553C has been identified in the scientific literature (PMID: 34338390), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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: 30923944, PMID: 37403699), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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, Nov 2024).
Y553S	missense	unknown	KIT Y553S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553S has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).	Y
Y553_E554del	deletion	gain of function - predicted	KIT Y553_E554del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 554 (PMID: 16226710). Y553_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.
Y553_E561delinsLK	indel	gain of function - predicted	KIT Y553_E561delinsLK results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 561, combined with the insertion of a leucine (L) and a lysine (K) at the same site (PMID: 16226710). Y553_E561delinsLK 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.
Y553_K558del	deletion	gain of function - predicted	KIT Y553_K558del results in the deletion of six amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 558 (PMID: 16226710). Y553_K558del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 12727838), and therefore, is predicted to lead to a gain of Kit protein function.
Y553_Q556del	deletion	gain of function	KIT Y553_Q556del results in the deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 556 (PMID: 16226710). Y553_Q556del confers a gain of function on Kit, as indicated by autophosphorylation of Kit, activation of Stat3 and Akt (PMID: 15690055), and increased Hmgb1 expression in patient samples (PMID: 12727838).
Y553_W557del	deletion	gain of function - predicted	KIT Y553_W557del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 553 to 557 (PMID: 16226710). Y553_W557del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 12727838), and therefore, is predicted to lead to a gain of Kit protein function.
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, Nov 2024).
Y568_L576delinsCV	indel	gain of function - predicted	KIT Y568_L576delinsCV results in a deletion of nine amino acids within the juxtamembrane domain (exon 11) of the Kit protein, combined with the insertion of a cysteine (C) and a valine (V) at the same site (PMID: 16226710). Y568_L576delinsCV 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.
Y568_T574del	deletion	gain of function - predicted	KIT Y568_T574del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 568 to 574 (PMID: 16226710). Y568_T574del 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.
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, Nov 2024).
Y570_L576del	deletion	gain of function - predicted	KIT Y570_L576del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 570 to 576 (PMID: 16226710). Y570_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.
Y570_Y578del	deletion	gain of function - predicted	KIT Y570_Y578del results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 570 to 578 (PMID: 16226710). Y570_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.
Y578C	missense	gain of function - predicted	KIT Y578C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y578C results in constitutive phosphorylation of Kit in cell culture (PMID: 23567324), and therefore, is predicted to lead to a gain of Kit protein function.
Y578_D579del	deletion	gain of function - predicted	KIT Y578_D579del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 578 to 579 (PMID: 16226710). Y578_D579del 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.
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, Nov 2024).
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, Nov 2024).
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, Nov 2024).
Y823D	missense	gain of function	KIT Y823D lies within the protein kinase domain of the Kit protein (UniProt.org). Y823D confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit in cultured cells (PMID: 14695343, PMID: 20633291).
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, Nov 2024).
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), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
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, Nov 2024).

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