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Gene | ALK |
Variant | V757M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK V757M lies within the extracellular domain of the Alk protein (UniProt.org). V757M has been identified in the scientific literature (PMID: 37900840, PMID: 26933125, PMID: 24710307), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK V757M |
Transcript | NM_004304.5 |
gDNA | chr2:g.29239766C>T |
cDNA | c.2269G>A |
Protein | p.V757M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29239766C>T | c.2269G>A | p.V757M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK V757M | fibrosarcoma | predicted - sensitive | Crizotinib | Case Reports/Case Series | Actionable | In a clinical case study, Xalkori (crizotinib) treatment resulted in significant tumor reduction in a patient with metastatic sclerosing epithelioid fibrosarcoma harboring ALK V757M (PMID: 37900840). | 37900840 |