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Gene FGFR2
Variant V564L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 V564L (also referred to as V565L from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564L results in increased Fgfr2 kinase activity in cell culture and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980), 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 V564L

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Transcript NM_000141.5
gDNA chr10:g.121496705C>G
cDNA c.1690G>C
Protein p.V564L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144916.2 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_000141 chr10:g.121496705C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
NM_001144916 chr10:g.121487376C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
XM_024447887.2 chr10:g.121488077C>G c.1690G>C p.V564L RefSeq GRCh38/hg38
XM_024447887.1 chr10:g.121488077C>G c.1690G>C p.V564L RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries