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Gene FGFR2
Variant S252W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 S252W lies within the extracellular domain of the Fgfr2 protein (UniProt.org). The functional effect of S252W is conflicting as it results in loss of ligand specificity, increased Fgfr2 activation, and is transforming in cell culture (PMID: 11121055, PMID: 18552176) but results in a growth advantage relative to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type Fgfr2 in cultured cells in another study (PMID: 34272467), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 S252W

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Transcript NM_000141.4
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_022970 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_000141 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_001144913 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 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_000141.4 chr10:g.121520163G>C c.755C>G p.S252W RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References