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Gene | FBXW7 |
Variant | R479L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 R479L lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479L confers a loss of function to the Fbxw7 protein as demonstrated by increased ubiquitination and decreased stability of the Fbxw7 protein (PMID: 22608923). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R479L |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152326214C>A |
cDNA | c.1436G>T |
Protein | p.R479L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |