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Gene | ALK |
Variant | F1174V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK F1174V lies within the protein kinase domain of the Alk protein (UniProt.org). F1174V results in constitutive activation of the Alk protein in cell culture (PMID: 21242967) and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 24675041), and therefore, is predicted to lead to a gain of Alk protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK act mut ALK F1174V ALK mutant ALK F1174X ALK F1174V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220831A>C |
cDNA | c.3520T>G |
Protein | p.F1174V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220831A>C | c.3520T>G | p.F1174V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220831A>C | c.3520T>G | p.F1174V | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220831A>C | c.3520T>G | p.F1174V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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