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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 |
| 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_000141 | 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_000141.5 | 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 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 C382R | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |
| FGFR2 C382R FGFR2 N550K | ||
| FGFR2 C382R FGFR2 N549D FGFR2 N549H FGFR2 N549K FGFR2 V564L | ||
| FGFR2 C382R FGFR2 N550D | ||
| FGFR2 C382R FGFR2 N549D | ||
| FGFR2 C382R FGFR2 M538I FGFR2 N550D FGFR2 V565I |