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| Gene | FGFR2 |
| Variant | S791T |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 S791T lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). S791T results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), 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 S791T |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121479952A>T |
| cDNA | c.2371T>A |
| Protein | p.S791T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006717708.4 | chr10:g.121480005C>G | c.2372G>C | p.S791T | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121479952A>T | c.2371T>A | p.S791T | RefSeq | GRCh38/hg38 |
| XM_017015920.3 | chr10:g.121480097C>G | c.2372G>C | p.S791T | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121479952A>T | c.2371T>A | p.S791T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FGFR2 S791T | gain of function - predicted |