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| Gene | FGFR2 |
| Variant | C342R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 C342R lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342R results in Jun, Akt, p38, and Pkc expression and phosphorylation similar to wild-type Fgfr2 in culture (PMID: 36231091), but leads to constitutive Fgfr2 dimer formation in an in vitro assay (PMID: 27596331), increased Ampk expression and phosphorylation Ampk, Fgfr2 and Erk1/2, and altered mitochondrial morphology and increased osteogenesis and proliferation in cultured cells (PMID: 36231091). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 C342R |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121517379A>G |
| cDNA | c.1024T>C |
| Protein | p.C342R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.4 | chr10:g.121517379A>G | c.1024T>C | p.C342R | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121517379A>G | c.1024T>C | p.C342R | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121517379A>G | c.1024T>C | p.C342R | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121517379A>G | c.1024T>C | p.C342R | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121517379A>G | c.1024T>C | p.C342R | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121517379A>G | c.1024T>C | p.C342R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|