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

Filtering

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  • Use simple literal full or partial string matches
  • 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 Protein Effect Treatment Approaches
FGFR2 V564F gain of function - predicted FGFR Inhibitor (Pan) FGFR2 Inhibitor
FGFR2 fusion FGFR2 V564F