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Gene | FGFR2 |
Variant | P253L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 P253L lies within the extracellular domain of the Fgfr2 protein (UniProt.org). P253L does not confer growth advantage over wild-type Fgfr2 in a competition assay, but results in increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 P253L FGFR2 mutant FGFR2 exon7 FGFR2 P253L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520160G>A |
cDNA | c.758C>T |
Protein | p.P253L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |