FGFR2 C383R
Gene Variant Detail

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Gene FGFR2
Variant C383R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 C383R (corresponds to C382R in the canonical isoform) lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). The functional effect of C383R is conflicting as it results in Fgfr2 autophosphorylation and transformation in culture in one study (PMID: 9136983), but results in colony formation similar to wild-type Fgfr2 in another study, and retains Frs2 phosphorylation but results in loss of FGF7-stimulated shedding of HB-EGF and Mapk phosphorylation in culture (PMID: 37759450), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 C383R

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Transcript NM_022970.4
gDNA chr10:g.121515260A>G
cDNA c.1147T>C
Protein p.C383R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970.3 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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