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Gene | ALK |
Variant | F1245Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK F1245Y lies within the protein kinase domain of the Alk protein (UniProt.org). F1245Y has been identified in the scientific literature (PMID: 37012551, PMID: 30523111), 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 F1245X ALK F1245Y |
Transcript | NM_004304.5 |
gDNA | chr2:g.29213993A>T |
cDNA | c.3734T>A |
Protein | p.F1245Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29213993A>T | c.3734T>A | p.F1245Y | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29213993A>T | c.3734T>A | p.F1245Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK F1245Y | neuroblastoma | predicted - sensitive | Lorlatinib | Case Reports/Case Series | Actionable | In a clinical case study, Lorbrena (lorlatinib) treatment resulted in a complete response in a patient with neuroblastoma harboring ALK F1245Y (PMID: 37147298). | 37147298 |