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Gene Symbol NTRK1
Synonyms MTC | p140-TrkA | TRK | Trk-A | TRK1 | TRKA
Gene Description NTRK1, neurotrophic receptor tyrosine kinase 1, is a receptor tyrosine kinase involved in maturation and development of the nervous system through MAPK/ERK and AKT/PKB signaling pathways (PMID: 30542115). Fusions involving NTRK1, with multiple gene partners, and producing constitutively active Ntrk1 kinase activity have been demonstrated to be oncogenic in a variety of tumor types (PMID: 25054037), including pediatric cancers (PMID: 31965543) and other solid tumors (PMID: 31145161, PMID: 32127185, PMID: 32133433), while NTRK1 missense mutations are often associated with resistance to TRK inhibition (PMID: 31406350).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
4914 1 1q23.1 NM_002529 Both: Oncogene and Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A107V missense unknown NTRK1 A107V lies within LRR repeat 1 of the Ntrk1 protein (UniProt.org). A107V has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
A110V missense unknown NTRK1 A110V lies within LRR repeat 1 of the Ntrk1 protein (UniProt.org). A110V has not been characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
A336E missense unknown NTRK1 A336E lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). A336E has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
A34T missense unknown NTRK1 A34T lies within the extracellular domain of the Ntrk1 protein (UniProt.org). A34T has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
A421V missense unknown NTRK1 A421V lies within the extracellular domain of the Ntrk1 protein (UniProt.org). A421V has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
A542V missense unknown NTRK1 A542V lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). A542V has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
A608D missense unknown NTRK1 A608D lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). A608D has been demonstrated to promote secondary drug resistance in the context of CTRC-NTRK1 (PMID: 29466156), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
act mut unknown gain of function NTRK1 act mut indicates that this variant results in a gain of function in the Ntrk1 protein. However, the specific amino acid change has not been identified.
amp none no effect NTRK1 amp indicates an increased number of copies of the NTRK1 gene. However, the mechanism causing the increase is unspecified.
D509N missense unknown NTRK1 D509N lies within the cytoplasmic domain of the Ntrk1 protein (UniProt.org). D509N has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
D668N missense gain of function NTRK1 D668N lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). D668N results in increased autophosphorylation of Ntrk1 and enhanced transforming activity in cell culture (PMID: 12447696).
D668V missense no effect NTRK1 D668V lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). D668V demonstrates autophosphorylation and transforming activity similar to wild-type Ntrk1 in cell culture (PMID: 12447696).
D679G missense unknown NTRK1 D679G lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). D679G has been demonstrated to confer resistance to Ntrk inhibitors as a secondary resistance mutation in the context of TPM3-NTRK1 (PMID: 28751539), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
D709N missense unknown NTRK1 D709N lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). D709N has been identified in sequencing studies (PMID: 30362515), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
D738N missense unknown NTRK1 D738N lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). D738N has been identified in sequencing studies (PMID: 24643969), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
dec exp none no effect Ntrk1 dec exp indicates decreased expression of the Ntrk1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E142K missense unknown NTRK1 E142K lies within the extracellular domain of the Ntrk1 protein (UniProt.org). E142K has been identified in sequencing studies (PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
E172Q missense unknown NTRK1 E172Q lies within the LRRCT domain of the Ntrk1 protein (UniProt.org). E172Q has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
E324D missense unknown NTRK1 E324D lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). E324D has been identified in sequencing studies (PMID: 26168399), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
E324K missense unknown NTRK1 E324K lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). E324K has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
E548Q missense unknown NTRK1 E548Q lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). E548Q has been associated with resistance to NTRK inhibitors in the context of an NTRK1 fusion (PMID: 33004339), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024). Y
E66D missense unknown NTRK1 E66D lies within the extracellular domain of the Ntrk1 protein (UniProt.org). E66D has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
E735D missense unknown NTRK1 E735D lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). E735D has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
E92K missense unknown NTRK1 E92K lies within LRR repeat 1 of the Ntrk1 protein (UniProt.org). E92K has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
F589L missense unknown NTRK1 F589L lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). F589L has been demonstrated to promote secondary drug resistance in the context of LMNA-NTRK1 (PMID: 29466156) and TMP3-NTRK1 (PMID: 33328556), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
F646I missense unknown NTRK1 F646I lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). F646I has been demonstrated to confer resistance to Ntrk inhibitors as a secondary resistance mutation in the context of TPM3-NTRK1 (PMID: 28751539), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
fusion fusion unknown NTRK1 fusion indicates a fusion of the NTRK1 gene, but the fusion partner is unknown.
G166R missense unknown NTRK1 G166R lies within the LRRCT domain of the Ntrk1 protein (UniProt.org). G166R has been identified in sequencing studies (PMID: 27059424), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
G169R missense unknown NTRK1 G169R lies within the LRRCT domain of the Ntrk1 protein (UniProt.org). G169R has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
G18E missense unknown NTRK1 G18E does not lie within any known functional domains of the Ntrk1 protein (UniProt.org). G18E has been identified in the scientific literature (PMID: 29541442, PMID: 28590426, PMID: 27363283), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
G221A missense unknown NTRK1 G221A lies within Ig-like C2-type domain 1 of the Ntrk1 protein (UniProt.org). G221A has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
G517R missense unknown NTRK1 G517R lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G517R has not been characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024).
G517V missense unknown NTRK1 G517V lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G517V has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
G519S missense unknown NTRK1 G519S lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G519S has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
G577V missense unknown NTRK1 G577V lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G577V has been identified in sequencing studies (PMID: 27167109, PMID: 36586518), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
G595L missense unknown NTRK1 G595L lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G595L has been demonstrated to confer resistance to Ntrk inhibitors as a secondary resistance mutation in the context of TPM3-NTRK1 (PMID: 28751539), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
G595R missense unknown NTRK1 G595R lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G595R has been demonstrated to confer resistance to Ntrk inhibitors as a secondary resistance mutation in the context of NTRK1 fusions (PMID: 28751539, PMID: 26546295, PMID: 29568395), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024). Y
G607V missense no effect NTRK1 G607V (corresponds to G613V in the canonical isoform) lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G607V demonstrates autophosphorylation of Ntrk1 similar to wild-type protein in cell culture and has been described as a likely polymorphism (PMID: 11159935, PMID: 11719521, PMID: 28591715).
G613V missense unknown NTRK1 G613V lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G613V is not transforming in culture, but results in increased phosphorylation of Akt in combination with NTRK1 H604Y in patient samples and has been associated with resistance to NTRK inhibitors in cell culture (PMID: 38531265), but has not been individually biochemically characterized and therefore, its effect on Nrtk1 protein function is unknown. Y
G620D missense unknown NTRK1 G620D lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G620D has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
G623S missense unknown NTRK1 G623S lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G623S has been identified in sequencing studies (PMID: 35768438), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024).
G667A missense unknown NTRK1 G667A lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G667A has been identified in the scientific literature (PMID: 34790577), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
G667C missense unknown NTRK1 G667C lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G667C has been demonstrated to confer resistance to Ntrk inhibitors as a secondary resistance mutation in the context of NTRK1 fusions (PMID: 28751539, PMID: 26546295), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
G667S missense unknown NTRK1 G667S lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G667S has been associated with kinase inhibitor resistance in the context of NTRK1 fusions (PMID: 29466156, PMID: 33328556), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Apr 2024). Y
G670A missense unknown NTRK1 G670A lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G670A has been identified in the scientific literature (PMID: 33004339), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
G670C missense unknown NTRK1 G670C lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). G670C has been identified in the scientific literature (PMID: 33004339), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
G91R missense unknown NTRK1 G91R lies within LRR repeat 1 of the Ntrk1 protein (UniProt.org). G91R has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
H298Q missense unknown NTRK1 H298Q lies within the extracellular domain of the Ntrk1 protein (UniProt.org). H298Q has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
H598Y missense no effect NTRK1 H598Y (corresponds to H604Y in the canonical isoform) lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). H598Y demonstrates autophosphorylation of Ntrk1 similar to wild-type protein in cell culture and has been classified as a likely polymorphism (PMID: 11159935, PMID: 11719521).
H604Y missense unknown NTRK1 H604Y lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). H604Y is not transforming in culture, but results in increased phosphorylation of Akt in combination with NTRK1 G613V in patient samples and has been associated with resistance to NTRK inhibitors in cell culture (PMID: 38531265), but has not been individually biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown.
inact mut unknown loss of function NTRK1 inact mut indicates that this variant results in a loss of function of the Ntrk1 protein. However, the specific amino acid change has not been identified.
K544N missense loss of function NTRK1 K544N lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). K544N (corresponds to K547N in rat) results in reduced membrane mobility of Ntrk1, and impaired internalization and phosphorylation of Ntrk1 upon Ngf stimulation in cell culture (PMID: 31760089).
K665N missense unknown NTRK1 K665N lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). K665N has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
L564H missense unknown NTRK1 L564H lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). L564H has been demonstrated to confer resistance to Ntrk inhibitors as a secondary resistance mutation in the context of TPM3-NTRK1 (PMID: 28751539), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
M375I missense unknown NTRK1 M375I lies within the extracellular domain of the Ntrk1 protein (UniProt.org). M375I has been identified in sequencing studies (PMID: 28351930, PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
M375T missense unknown NTRK1 M375T lies within the extracellular domain of the Ntrk1 protein (UniProt.org). M375T has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
M688T missense loss of function NTRK1 M688T lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). M688T results in a loss of Ntrk1 phosphorylation and transforming activity in cell culture (PMID: 12447696).
mutant unknown unknown NTRK1 mutant indicates an unspecified mutation in the NTRK1 gene.
over exp none no effect NTRK1 over exp indicates an over expression of the Ntrk1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
P201A missense gain of function - predicted NTRK1 P201A lies within Ig-like C2-type domain 1 of the Ntrk1 protein (UniProt.org). P201A is predicted to result in a gain of Ntrk1 protein function, as the corresponding rat variant (P203A) results in ligand-independent dimerization and phosphorylation of Ntrk1 and is transforming in cell culture (PMID: 11313867).
P311L missense unknown NTRK1 P311L lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). P311L has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
P606H missense unknown NTRK1 P606H lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). P606H has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
P727H missense unknown NTRK1 P727H lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). P727H has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
positive unknown unknown NTRK1 positive indicates the presence of the NTRK1 gene, mRNA, and/or protein.
Q289K missense unknown NTRK1 Q289K lies within the extracellular domain of the Ntrk1 protein (UniProt.org). Q289K has been identified in sequencing studies (PMID: 23661334), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
Q536K missense unknown NTRK1 Q536K lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). Q536K has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
Q77H missense unknown NTRK1 Q77H lies within the extracellular domain of the Ntrk1 protein (UniProt.org). Q77H has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
Q80* nonsense loss of function - predicted NTRK1 Q80* results in a premature truncation of the Ntrk1 protein at amino acid 80 of 796 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Q80* is predicted to lead to a loss of Ntrk1 protein function.
R342Q missense unknown NTRK1 R342Q lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). R342Q has been identified in sequencing studies (PMID: 29106415, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R342W missense unknown NTRK1 R342W lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). R342W has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R347C missense unknown NTRK1 R347C lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). R347C has been identified in sequencing studies (PMID: 29500272, PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R444Q missense unknown NTRK1 R444Q lies within the cytoplasmic domain of the Ntrk1 protein (UniProt.org). R444Q has been identified in sequencing studies (PMID: 20579941, PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R444W missense unknown NTRK1 R444W lies within the cytoplasmic domain of the Ntrk1 protein (UniProt.org). R444W has been identified in sequencing studies (PMID: 29338072, PMID: 23525077, PMID: 38817298), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R49G missense unknown NTRK1 R49G lies within the extracellular domain of the Ntrk1 protein (UniProt.org). R49G has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R593Q missense unknown NTRK1 R593Q lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R593Q has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R649W missense unknown NTRK1 R649W lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R649W results in decreased NGF-induced membrane mobility and phosphorylation of Ntrk1 in cell culture, leads to impaired neuronal development, pain and mechanical stimuli response, and cognitive functions, and early postnatal lethality in mouse models (PMID: 36537577).
R654H missense unknown NTRK1 R654H lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R654H has been identified in sequencing studies (PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R682S missense unknown NTRK1 R682S lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R682S has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R686G missense unknown NTRK1 R686G lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R686G has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R692C missense unknown NTRK1 R692C lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R692C has been identified in sequencing studies (PMID: 29338072, PMID: 26373574, PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R6W missense unknown NTRK1 R6W does not lie within any known functional domains of the Ntrk1 protein (UniProt.org). R6W has been identified in sequencing studies (PMID: 27997549, PMID: 27499925), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
R780Q missense unknown NTRK1 R780Q lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). R780Q has been identified in the scientific literature (PMID: 18056464, PMID: 28801450, PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
rearrange unknown unknown NTRK1 rearrangement indicates an unspecified rearrangement of the NTRK1 gene.
S241Y missense unknown NTRK1 S241Y lies within Ig-like C2-type domain 1 of the Ntrk1 protein (UniProt.org). S241Y has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
S304F missense unknown NTRK1 S304F lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). S304F has been identified in sequencing studies (PMID: 29141224), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
S304Y missense unknown NTRK1 S304Y lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). S304Y has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
S320F missense unknown NTRK1 S320F lies within Ig-like C2-type domain 2 of the Ntrk1 protein (UniProt.org). S320F has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
S371F missense unknown NTRK1 S371F lies within the extracellular domain of the Ntrk1 protein (UniProt.org). S371F has been identified in sequencing studies (PMID: 29106415), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
S404F missense unknown NTRK1 S404F lies within the extracellular domain of the Ntrk1 protein (UniProt.org). S404F has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
S712R missense unknown NTRK1 S712R lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). S712R has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
V211M missense unknown NTRK1 V211M lies within Ig-like C2-type domain 1 of the Ntrk1 protein (UniProt.org). V211M has been identified in sequencing studies (PMID: 29349598, PMID: 26564005, PMID: 35735437), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
V3_splice splice isoform gain of function NTRK1 V3_splice (TrkAIII) is a splice variant that results in the skipping of exons 6, 7, and 9 of the canonical NTRK1 transcript, leading to a loss of the D4 Ig-like domain (PMID: 15488758). V3_splice results in constitutive tyrosine phosphorylation, increased NF-kappa B and PI3K/Akt signaling, transformation activity in cell culture, and tumor growth in mouse models (PMID: 15488758).
V420M missense unknown NTRK1 V420M lies within the extracellular domain of the Ntrk1 protein (UniProt.org). V420M has been identified in sequencing studies (PMID: 27733479), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
V573M missense unknown NTRK1 V573M lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). V573M is associated with resistance to some Ntrk inhibitors in the context of NTRK1 fusions (PMID: 33328556), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Aug 2024). Y
V578M missense unknown NTRK1 V578M lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). V578M has not been characterized in the scientific literature and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
V710A missense loss of function NTRK1 V710A lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). V710A results in decreased Ntrk1 autophosphorylation and reduced Erk activity in cell culture (PMID: 27272783).
W711* nonsense unknown NTRK1 W711* results in a premature truncation of the Ntrk1 protein at amino acid 711 of 796 (UniProt.org). W711* has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jul 2024).
W728R missense unknown NTRK1 W728R lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). W728R has been identified in sequencing studies (PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
wild-type none no effect Wild-type NTRK1 indicates that no mutation has been detected within the NTRK1 gene.
Y640C missense unknown NTRK1 Y640C lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). Y640C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Ntrk1 protein function is unknown (PubMed, Jun 2024).
TP53 - NTRK1 fusion unknown TP53-NTRK1 results from the fusion of TP53 and NTRK1 (PMID: 24445538). TP53-NTRK1 has been identified in spitzoid tumors (PMID: 24445538) and papillary thyroid cancer (PMID: 37236546), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jun 2024).