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Gene | FBXW7 |
Variant | S462Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 S462Y lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). S462Y is predicted to have activity similar to wild-type Fbxw7 based on comparison and correlation analysis of induced gene expression signatures (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 S462Y |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328241G>T |
cDNA | c.1385C>A |
Protein | p.S462Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |