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Gene | FGFR1 |
Variant | K656E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR1 K656E lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656E does not confer a growth advantage in a competition assay but confers a gain of function to the Fgfr1 protein as demonstrated by constitutive activation of MAPK signaling (PMID: 23817572), and is transforming in cultured cells (PMID: 23817572, PMID: 34272467). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 K656E |
Transcript | NM_023110.3 |
gDNA | chr8:g.38414790T>C |
cDNA | c.1966A>G |
Protein | p.K656E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |