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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 |
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 |
---|---|---|---|---|---|
XM_024447888.2 | chr10:g.121496556_121496557delGCinsAG | c.1625_1626delGCinsAG | p.G542E | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121498542C>T | c.1625G>A | p.G542E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121498542C>T | c.1625G>A | p.G542E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 G542E | loss of function - predicted |