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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 is predicted to confer a gain of function as demonstrated by 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).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 V565F

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Transcript NM_001144913
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
XM_006717711 chr10:g.121488075_121488077delTACinsAAA c.1693_1695delGTAinsTTT p.V565F RefSeq GRCh38/hg38
NM_001144913 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_024447890.1 chr10:g.121488075_121488077delGTAinsTTT c.1693_1695delGTAinsTTT p.V565F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 fusion FGFR2 V565F intrahepatic cholangiocarcinoma resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 V565F were resistant to treatment as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 V565F intrahepatic cholangiocarcinoma decreased response Debio 1347 Preclinical - Cell culture Actionable In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 V565F had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923
FGFR2 fusion FGFR2 V565F intrahepatic cholangiocarcinoma resistant Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 V565F were resistant to treatment, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). 31109923