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Gene | FGFR2 |
Variant | G227E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 G227E lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). The functional effect of G227E is conflicting, as it has been reported to impair receptor processing and trafficking to the cell membrane and reduce ligand-dependent cell proliferation in one study (PMID: 19147536), similar cell proliferation and viability levels to wild-type Fgfr2 in two different cell lines in another study (PMID: 29533785), and a growth advantage relative to wild-type Fgfr2 in a competition assay but transformation activity similar to wild-type Fgfr2 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 G227E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121538660C>T |
cDNA | c.680G>A |
Protein | p.G227E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |