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Gene | FBXW7 |
Variant | R465C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 R465C lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). R465C confers a loss of Fbxw7 protein function as demonstrated by a loss of Fbxw7-substrate interaction and impaired substrate degradation by Fbxw7, resulting in sustained Notch1 intracellular domain and Myc expression (PMID: 17646409), impaired degradation of Klf5 (PMID: 28963353), aberrant subnuclear localization relative to wild-type Fbxw7 in culture (PMID: 30510140), and reduced suppression of migration, invasion, and colony formation in culture (PMID: 31161818). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R465C |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328233G>A |
cDNA | c.1393C>T |
Protein | p.R465C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |