Gene Variant Detail

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Gene FGFR2
Variant S252W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 S252W lies within the extracellular domain of the Fgfr2 protein (UniProt.org). S252W results in a growth advantage relative to wild-type Fgfr2 in a competition assay and transformation activity similar to overexpressed Fgfr2 in cultured cells (PMID: 34272467), and results in loss of ligand specificity, increased Fgfr2 phosphorylation, increased FGF7-stimulated shedding of HB-EGF, and is transforming in cell culture (PMID: 11121055, PMID: 18552176, PMID: 37759450), 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 S252W

FGFR2 mutant FGFR2 exon7 FGFR2 S252W

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Transcript NM_000141.5
gDNA chr10:g.121520163G>C
cDNA c.755C>G
Protein p.S252W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_022970 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT01888562 Phase I Ponatinib Ponatinib in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma Withdrawn 0