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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 results in increased kinase activity in cell culture (PMID: 25169980) and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 28034880), 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 V564F

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Transcript NM_000141.5
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_000141.5 chr10:g.121496705C>A c.1690G>T p.V564F RefSeq GRCh38/hg38
NM_000141 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_001144916.1 chr10:g.121487374_121487376delGTAinsTTT c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38
NM_001144916 chr10:g.121487374_121487376delTACinsAAA c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121487374_121487376delGTAinsTTT c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496705C>A c.1690G>T p.V564F RefSeq GRCh38/hg38
XM_024447887.2 chr10:g.121488075_121488077delGTAinsTTT c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38

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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
FGFR2 V564F Advanced Solid Tumor predicted - sensitive RLY-4008 Preclinical - Biochemical Actionable In a preclinical study, RLY-4008 treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). 37270847
FGFR2 V564F Advanced Solid Tumor predicted - resistant Futibatinib Preclinical - Biochemical Actionable In a preclinical study, Lytgobi (futibatinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). 37270847
FGFR2 V564F Advanced Solid Tumor resistant Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, a cell line expressing FGFR2 V564F was resistant to Pemazyre (pemigatinib) in a kinase assay and in culture (PMID: 36698015). 36698015
FGFR2 V564F Advanced Solid Tumor resistant Pemigatinib Preclinical - Biochemical Actionable In a preclinical study, Pemazyre (pemigatinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). 37270847
FGFR2 V564F Advanced Solid Tumor predicted - resistant Erdafitinib Preclinical - Biochemical Actionable In a preclinical study, Balversa (erdafitinib) failed to inhibit Fgfr2 phosphorylation in cultured cells expressing FGFR2 V564F (PMID: 37270847). 37270847