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Gene | FBXW7 |
Variant | R505C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 R505C lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505C results in ubiquitination and degradation of Braf similar to wild-type Fbxw7 in cultured cells (PMID: 32907612), but confers a loss of function to Fbxw7 as indicated by a loss of binding to NICD in cell culture (PMID: 17646409), impaired degradation of NICD, resulting in increased activity in a luciferase assay (PMID: 27247421), failure to degrade cyclin E, c-Myc, and Mcl1 in cell culture (PMID: 32907612), aberrant subnuclear localization (PMID: 30510140), and impaired degradation of Klf5 in cell culture (PMID: 28963353). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R505C |
Transcript | NM_033632.3 |
gDNA | chr4:g.152326137G>A |
cDNA | c.1513C>T |
Protein | p.R505C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |