Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FGFR2 |
| Variant | S792Ffs*4 |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 S792Ffs*4 indicates a shift in the reading frame starting at amino acid 792 and terminating four residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). S792Ffs*4 (corresponding to S697Ffs*4 in a mouse isoform) leads to limited increase in FGFR2 signaling and colony formation in cell culture but promotes tumor formation in a mouse model (PMID: 35948633), and therefore, its effect on Fgfr2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 S792Ffs*4 |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121479950dupA |
| cDNA | c.2374dupT |
| Protein | p.S792Ffs*4 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121479950dupA | c.2374dupT | p.S792Ffs*4 | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121479951_121479952delGA | c.2375_2376delCT | p.S792Ffs*4 | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121479950dupA | c.2374dupT | p.S792Ffs*4 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|