FGFR2 W290C
Gene Variant Detail

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Gene FGFR2
Variant W290C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 W290C lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). W290C does not result in increased Fgfr2 phosphorylation, but increases both ligand-dependent and ligand-independent dimerization of Fgfr2 (PMID: 23786770), results in a growth advantage relative to wild-type Fgfr2 in a competition assay (PMID: 34272467), is transforming in cell culture (PMID: 23786770, PMID: 34272467), and promotes tumor formation in xenograft models (PMID: 23786770).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 W290C

FGFR2 mutant FGFR2 exon7 FGFR2 W290C

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Transcript NM_000141.5
gDNA chr10:g.121520048C>A
cDNA c.870G>T
Protein p.W290C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144917 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_022970 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520048C>A c.870G>T p.W290C RefSeq GRCh38/hg38
NM_000141 chr10:g.121520048C>A c.870G>T p.W290C 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