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Gene | FGFR3 |
Variant | S400fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR3 S400fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 400 of 806, likely resulting in a premature truncation of the functional protein (UniProt.org). Due to a loss of the protein kinase domain (UniProt.org), S400fs is predicted to lead to a loss of Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 inact mut FGFR3 S400fs |
Transcript | NM_000142.5 |
gDNA | chr4:g.(1804451_1804452) |
cDNA | c.(1198_1197) |
Protein | p.S400fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |