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| Gene | FGFR2 |
| Variant | S789* |
| Impact List | nonsense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 S789* results in a premature truncation of the Fgfr2 protein at amino acid 789 of 821 (UniProt.org). S789* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (S694*) promotes colony formation in cell culture and leads to tumor formation in a mouse model (PMID: 35948633). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S789* |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121479956_121479957delCTinsAA |
| cDNA | c.2366_2367delCTinsAA |
| Protein | p.S789* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_022970.4 | chr10:g.121479959_121479961delAGTinsTGA | c.2365_2367delAGTinsTGA | p.S789* | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121479956_121479957delCTinsAA | c.2366_2367delCTinsAA | p.S789* | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121479956_121479957delCTinsAA | c.2366_2367delCTinsAA | p.S789* | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121479950_121479951delCTinsAA | c.2366_2367delCTinsAA | p.S789* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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