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Gene | FGFR2 |
Variant | F276C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 F276C lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniPort.org). F276C results in increased Fgfr2 expression, altered cellular localization, and ligand-independent Erk phosphorylation in culture (PMID: 30761385). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 F276C FGFR2 mutant FGFR2 exon7 FGFR2 F276C |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520091A>C |
cDNA | c.827T>G |
Protein | p.F276C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |