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| Gene | FGFR3 |
| Variant | L794fs |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | FGFR3 L794fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 794 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). L794fs has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 L794fs |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.(1807220_1807221) |
| cDNA | c.(2380_2379) |
| Protein | p.L794fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047449824.1 | chr4:g.(1807220_1807221) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.(1807220_1807221) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| XM_047449823.1 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.(1807220_1807221) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.(1807220_1807221) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| XM_006713872 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| NM_001354809.2 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| NM_001354809.1 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| XM_047449822.1 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|