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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 2024).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 L794fs

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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
NM_000142 chr4:g.(1807220_1807221) c.(2380_2379) p.L794fs RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.(1807217_1807218) c.(2380_2379) p.L794fs RefSeq GRCh38/hg38
XM_047449824.1 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
NM_000142.4 chr4:g.(1807220_1807221) c.(2380_2379) p.L794fs RefSeq GRCh38/hg38
XM_006713873.2 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_001354809.2 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
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

Filtering

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Sorting

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 L794fs unknown