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Gene | FGFR2 |
Variant | S354C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 S354C lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S354C confers a gain of function to the Fgfr2 protein, as demonstrated by increased transactivation of Runx2, increased autophosphorylation, and increased Erk1/2 phosphorylation, as compared to wild-type in in vitro assays (PMID: 23913723). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S354C |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517342G>C |
cDNA | c.1061C>G |
Protein | p.S354C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |