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Gene | ALK |
Variant | F1245L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK F1245L lies within the protein kinase domain of the Alk protein (UniProt.org). F1245L has been identified in the scientific literature (PMID: 30867766, PMID: 18923524), 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 F1245L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29213994A>G |
cDNA | c.3733T>C |
Protein | p.F1245L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29213994A>G | c.3733T>C | p.F1245L | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29213994A>G | c.3733T>C | p.F1245L | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29213994A>G | c.3733T>C | p.F1245L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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