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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 |
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_000141 | 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_022970.4 | 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_001144913.1 | 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_001320658 | 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_001144917.2 | 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_001144917 | 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_000141.4 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 W290C | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |