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Gene | FGFR1 |
Variant | K656M |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR1 K656M lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). K656M results in decreased proliferation relative to wild-type Fgfr1 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 act mut FGFR1 K656M |
Transcript | NM_023110.3 |
gDNA | chr8:g.38414789T>A |
cDNA | c.1967A>T |
Protein | p.K656M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |