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Gene | FBXW7 |
Variant | R465L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 R465L lies within the WD repeat domain 3 of the Fbxw7 protein (UniProt.org). R465L confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in activation of a Notch-driven reporter (PMID: 19340001). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R465L |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328232C>A |
cDNA | c.1394G>T |
Protein | p.R465L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |