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| Gene | FGFR2 |
| Variant | L761Tfs*55 |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR2 L761Tfs*55 indicates a shift in the reading frame starting at amino acid 761 and terminating 55 residues downstream causing a premature truncation of the 821 amino acid Fgfr2 protein (UniProt.org). L761Tfs*55 results in increased transformation ability in one of two different cell lines (PMID: 29533785), but has not been fully biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 L761Tfs*55 |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.(121479875_121483718) |
| cDNA | c.(2281_2448) |
| Protein | p.L761Tfs*55 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001320658.1 | chr10:g.121483712_121483713insTTTGT | c.2280_2281insACAAA | p.L761Tfs*55 | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.(121479875_121483718) | c.(2281_2448) | p.L761Tfs*55 | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.(121479875_121483718) | c.(2281_2448) | p.L761Tfs*55 | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121483712_121483713insTTTGT | c.2280_2281insACAAA | p.L761Tfs*55 | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.(121479875_121483718) | c.(2281_2448) | p.L761Tfs*55 | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121483713_121483714insACGTT | c.2279_2280insAACGT | p.L761Tfs*55 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|