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Gene FGFR2
Variant G542E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR2 G542E lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G542E results in decreased proliferation relative 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 G542E

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Transcript NM_000141.5
gDNA chr10:g.121498542C>T
cDNA c.1625G>A
Protein p.G542E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121498542C>T c.1625G>A p.G542E RefSeq GRCh38/hg38
XM_024447888.2 chr10:g.121496556_121496557delGCinsAG c.1625_1626delGCinsAG p.G542E RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498542C>T c.1625G>A p.G542E RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries