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Gene | NTRK1 |
Variant | G613V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | 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. |
Associated Drug Resistance | Y |
Category Variants Paths |
NTRK1 mutant NTRK1 G613V |
Transcript | NM_002529.4 |
gDNA | chr1:g.156879154G>T |
cDNA | c.1838G>T |
Protein | p.G613V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002529.4 | chr1:g.156879154G>T | c.1838G>T | p.G613V | RefSeq | GRCh38/hg38 |
NM_002529.3 | chr1:g.156879154G>T | c.1838G>T | p.G613V | RefSeq | GRCh38/hg38 |
NM_002529 | chr1:g.156879154G>T | c.1838G>T | p.G613V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
NTRK1 G613V | dedifferentiated liposarcoma | resistant | Larotrectinib | Preclinical - Cell culture | Actionable | In a preclinical study, a dedifferentiated liposarcoma cell line expressing NTRK1 G613V demonstrated resistance to Vitrakvi (larotrectinib) in culture (PMID: 38531265). | 38531265 |
NTRK1 G613V | dedifferentiated liposarcoma | resistant | Selitrectinib | Preclinical - Cell culture | Actionable | In a preclinical study, a dedifferentiated liposarcoma cell line expressing NTRK1 G613V demonstrated resistance to Selitrectinib (LOXO-195) in culture (PMID: 38531265). | 38531265 |