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| Gene | NTRK1 |
| Variant | H604Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | NTRK1 H604Y lies within the protein kinase domain of the Ntrk1 protein (UniProt.org). H604Y is a common Ntrk1 polymorphism (PMID: 20003389, PMID: 38531265), and is not transforming in culture, 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. |
| Associated Drug Resistance | |
| Category Variants Paths |
NTRK1 mutant NTRK1 H604Y |
| Transcript | NM_002529.4 |
| gDNA | chr1:g.156879126C>T |
| cDNA | c.1810C>T |
| Protein | p.H604Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002529.4 | chr1:g.156879126C>T | c.1810C>T | p.H604Y | RefSeq | GRCh38/hg38 |
| NM_002529.3 | chr1:g.156879126C>T | c.1810C>T | p.H604Y | RefSeq | GRCh38/hg38 |
| NM_002529 | chr1:g.156879126C>T | c.1810C>T | p.H604Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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