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Gene FGFR2
Variant V564F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 V564F (also referred to as V565F from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564F 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).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 V564F

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Transcript NM_000141.4
gDNA chr10:g.121496705C>A
cDNA c.1690G>T
Protein p.V564F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121496705C>A c.1690G>T p.V564F RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496705C>A c.1690G>T p.V564F RefSeq GRCh38/hg38
XM_024447887.1 chr10:g.121488075_121488077delGTAinsTTT c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38
NM_001144916 chr10:g.121487374_121487376delTACinsAAA c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121487374_121487376delGTAinsTTT c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 V564F Advanced Solid Tumor resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing FGFR2 V564F were resistant to Truseltiq (infigratinib) in culture (PMID: 25349422). 25349422
FGFR2 V564F Advanced Solid Tumor resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR2 V564F were resistant to Truseltiq (infigratinib) in culture (PMID: 28034880). 28034880
FGFR2 V564F Advanced Solid Tumor sensitive Debio 1347 Preclinical - Cell line xenograft Actionable In a preclinical study, Debio 1347 inhibited proliferation of transformed cells over expressing FGFR2 V564F in culture and inhibited tumor growth in cell line xenograft models (PMID: 25169980). 25169980
FGFR2 V564F Advanced Solid Tumor resistant AZD4547 Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells over expressing FGFR2 V564F were resistant to AZD4547 in culture and in cell line xenograft models (PMID: 25169980). 25169980