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| Gene | FGFR2 |
| Variant | R399* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FGFR2 R399* results in a premature truncation of the Fgfr2 protein at amino acid 399 of 821 (UniProt.org). R399* results in decreased proliferation relative to wild-type Fgfr2 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 inact mut FGFR2 R399* |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121515209G>A |
| cDNA | c.1195C>T |
| Protein | p.R399* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001320658.2 | chr10:g.121515209G>A | c.1195C>T | p.R399* | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121515209G>A | c.1195C>T | p.R399* | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121515209G>A | c.1195C>T | p.R399* | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121515209G>A | c.1195C>T | p.R399* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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