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Gene | FBXW7 |
Variant | W425C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 W425C lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). W425C confers a loss of function to the Fbxw7 protein, as demonstrated by aberrant subnuclear localization and the absence of Notch1 intracellular domain binding in culture (PMID: 30510140). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 W425C |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328351C>A |
cDNA | c.1275G>T |
Protein | p.W425C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |