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Gene | ALK |
Variant | F1174S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1174S lies within the protein kinase domain of the Alk protein (UniProt.org). F1174S results in ligand-independent activation of the Alk protein and increased Erk phosphorylation in culture (PMID: 21059859), activation in an in vitro assay (PMID: 33674381), and transformation of cells in culture (PMID: 21059859, PMID: 33674381, PMID: 29084134). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK F1174S ALK mutant ALK F1174X ALK F1174S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220830A>G |
cDNA | c.3521T>C |
Protein | p.F1174S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |