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Gene FGFR2
Variant V565F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 V565F (corresponds to V564F in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V565F results in increased Fgfr2 kinase activity in cell culture (PMID: 25169980) and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 28034880, PMID: 31109923), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 V565F

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Transcript NM_001144913.1
gDNA chr10:g.121496705C>A
cDNA c.1693G>T
Protein p.V565F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913.1 chr10:g.121496705C>A c.1693G>T p.V565F RefSeq GRCh38/hg38
NM_022970 chr10:g.121496705C>A c.1693G>T p.V565F RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496705C>A c.1693G>T p.V565F RefSeq GRCh38/hg38
XM_024447890.2 chr10:g.121488075_121488077delGTAinsTTT c.1693_1695delGTAinsTTT p.V565F RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496705C>A c.1693G>T p.V565F RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121496705C>A c.1693G>T p.V565F RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121496705C>A c.1693G>T p.V565F RefSeq GRCh38/hg38
XM_006717711 chr10:g.121488075_121488077delTACinsAAA c.1693_1695delGTAinsTTT p.V565F RefSeq GRCh38/hg38
XM_024447890.1 chr10:g.121488075_121488077delGTAinsTTT c.1693_1695delGTAinsTTT p.V565F RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries