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Gene | FGFR2 |
Variant | R251Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FGFR2 R251Q lies within the region linking Ig-like domains II and III of the Fgfr2 protein (PMID: 11121055). R251Q results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but confers a loss of function on the Fgfr2 protein as demonstrated by loss of ligand binding and diminished Mapk activation upon Fgf2 stimulation in cell culture (PMID: 19147536). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 R251Q FGFR2 mutant FGFR2 inact mut FGFR2 R251Q |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520166C>T |
cDNA | c.752G>A |
Protein | p.R251Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |