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Gene | FBXW7 |
Variant | G499Vfs*25 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 G499Vfs*25 indicates a shift in the reading frame starting at amino acid 499 and terminating 25 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). Due to the loss of multiple WD domains (UniProt.org), G499Vfs*25 is predicted to lead to a loss of Fbxw7 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 G499Vfs*25 |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152326156delC |
cDNA | c.1496delG |
Protein | p.G499Vfs*25 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |