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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, Mar 2023). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 L794fs |
Transcript | NM_000142.4 |
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 |
---|---|---|---|---|---|
NM_000142.4 | 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 |
NM_000142 | chr4:g.(1807220_1807221) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.(1807217_1807218) | c.(2380_2379) | p.L794fs | RefSeq | GRCh38/hg38 |
XM_006713872 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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