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Gene | FGFR2 |
Variant | N549S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 N549S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549S demonstrates increased transforming activity compared to wild-type Fgfr2 in culture (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 N549S |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498521T>C |
cDNA | c.1646A>G |
Protein | p.N549S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |