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Gene | FGFR2 |
Variant | C383R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 C383R (corresponds to C382R in the canonical isoform) lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). C383R results in Fgfr2 autophosphorylation and transformation in culture (PMID: 9136983), 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 C383R |
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_022970.4 | 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 | 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 |
NM_022970.3 | chr10:g.121515260A>G | c.1147T>C | p.C383R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 C383R FGFR2 N550K | endometrial cancer | resistant | PD173074 | Preclinical | Actionable | In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R and expressing FGFR2 N550K demonstrated resistance when treated with PD173074 (PMID: 23908597). | 23908597 |