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Gene | ALK |
Variant | F1174L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1174L lies within the protein kinase domain of the Alk protein (UniProt.org). F1174L confers a gain of function to the Alk protein as indicated by constitutive phosphorylation of Alk (PMID: 22072639), transformation activity and increased cell proliferation in culture (PMID: 18923525, PMID: 29533785, PMID: 29907598), and has been demonstrated to occur as a secondary resistance mutation in the context of ALK fusions (PMID: 21030459, PMID: 31452835). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK act mut ALK F1174L ALK mutant ALK F1174X ALK F1174L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220831A>G |
cDNA | c.3520T>C |
Protein | p.F1174L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220831A>G | c.3520T>C | p.F1174L | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220831A>G | c.3520T>C | p.F1174L | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220831A>G | c.3520T>C | p.F1174L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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