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Gene | FGFR2 |
Variant | V564I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 V564I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564I confers a gain of function to the Fgfr2 protein as indicated by increased Fgfr2 kinase activity (PMID: 25169980), results in FGF2-independent phosphorylation of Akt and Erk in cell culture (PMID: 29540482), and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V564I |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496705C>T |
cDNA | c.1690G>A |
Protein | p.V564I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |