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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_022970.4 | chr10:g.121479951_121479952delGA | c.2375_2376delCT | p.S792Ffs*4 | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121479950dupA | c.2374dupT | 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 |
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