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| Gene | FGFR2 |
| Variant | R625Q |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FGFR2 R625Q lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R625Q results in decreased proliferation compared 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 R625Q |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121488103C>T |
| cDNA | c.1874G>A |
| Protein | p.R625Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121488103C>T | c.1874G>A | p.R625Q | RefSeq | GRCh38/hg38 |
| XM_017015924.2 | chr10:g.121485428_121485429delAGinsCA | c.1873_1874delAGinsCA | p.R625Q | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121488103C>T | c.1874G>A | p.R625Q | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121483789_121483790delAGinsCA | c.1873_1874delAGinsCA | p.R625Q | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121488103C>T | c.1874G>A | p.R625Q | RefSeq | GRCh38/hg38 |
| NM_001144914 | chr10:g.121483789_121483790delCTinsTG | c.1873_1874delAGinsCA | p.R625Q | RefSeq | GRCh38/hg38 |
| XM_017015924.3 | chr10:g.121485428_121485429delAGinsCA | c.1873_1874delAGinsCA | p.R625Q | RefSeq | GRCh38/hg38 |
| XM_017015924 | chr10:g.121485428_121485429delCTinsTG | c.1873_1874delAGinsCA | p.R625Q | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121483789_121483790delAGinsCA | c.1873_1874delAGinsCA | p.R625Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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