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Gene | FGFR2 |
Variant | S782Rfs*3 |
Impact List | frameshift |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 S782Rfs*3 indicates a shift in the reading frame starting at amino acid 776 and terminating 6 residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). S782Rfs*3 is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (S687Rfs*3) 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 S782Rfs*3 |
Transcript | NM_000141.5 |
gDNA | chr10:g.121479976_121479977delAA |
cDNA | c.2346_2347delTT |
Protein | p.S782Rfs*3 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121479976_121479977delAA | c.2346_2347delTT | p.S782Rfs*3 | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121479976_121479977delAA | c.2346_2347delTT | p.S782Rfs*3 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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