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Gene | FGFR2 |
Variant | R625Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR2 R625Q lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R625Q results in decreased proliferation compared to wild-type Fgfr2 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 inact mut FGFR2 R625Q |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488103C>T |
cDNA | c.1874G>A |
Protein | p.R625Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |