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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_001144916.1 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
NM_001144916 chr10:g.121487374_121487376delTACinsAAA c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38
XM_024447887.1 chr10:g.121488075_121488077delGTAinsTTT c.1690_1692delGTAinsTTT p.V564F RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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 fusion FGFR2 V564F cholangiocarcinoma predicted - resistant Infigratinib Case Reports/Case Series Actionable In a clinical case study, FGFR2 V564F was identified in the cell-free DNA of 3 cholangiocarcinoma patients harboring FGFR2 fusion after the patients progressed while on Truseltiq (infigratinib) treatment (PMID: 28034880). 28034880
FGFR2 fusion FGFR2 V564F intrahepatic cholangiocarcinoma predicted - sensitive RLY-4008 Preclinical - Cell line xenograft Actionable In a preclinical study, RLY-4008 treatment led to tumor regression in a cell line xenograft model of intrahepatic cholangiocarcinoma harboring an FGFR2 fusion and FGFR2 V564F (Cancer Res 2021;81(13_Suppl):Abstract nr 1455). detail...