Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FBXW7 |
Variant | R465H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 R465H (corresponds to R385H in isoform 2) lies within the WD repeat 3 of the Fbxw7 protein (UniProt.org). R465H confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in sustained NICD and MYC expression (PMID: 17646409) and also has impaired degradation of Klf5 (PMID: 28963353). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R465H |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152328232C>T |
cDNA | c.1394G>A |
Protein | p.R465H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |