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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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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