FGFR2 C382R - Gene Variant Detail

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Gene FGFR2
Variant C382R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 C382R (also referred to as C383R) lies within the helical domain of the Fgfr2 protein (UniProt.org). C382R results in proliferation similar to wild-type Fgfr2 in a competition assay (PMID: 34272467), but confers a gain of function on the Fgfr2 protein, as demonstrated by constitutive MAPK pathway activation (PMID: 24993163), and transformation of cells in culture (PMID: 24993163, PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 C382R

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Transcript NM_000141.5
gDNA chr10:g.121515260A>G
cDNA c.1144T>C
Protein p.C382R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.2 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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
NCT01888562 Phase I Ponatinib Ponatinib in the Treatment of FGFR Mutation Positive Recurrent or Persistent Endometrial Carcinoma Withdrawn 0