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Gene FGFR2
Variant L560F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 L560F lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L560F results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 L560F

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Transcript NM_000141.5
gDNA chr10:g.121496717G>A
cDNA c.1678C>T
Protein p.L560F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144916.2 chr10:g.121487386_121487388delCTGinsTTT c.1678_1680delCTGinsTTT p.L560F RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496717G>A c.1678C>T p.L560F RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496717G>A c.1678C>T p.L560F 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries