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Gene | FBXW7 |
Variant | H460R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 H460R lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). H460R is predicted to confer a loss of function to the Fbxw7 protein, as demonstrated by overexpression of the Fbxw7 ubiquitination target protein, Ccne1 (PMID: 14507635). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 H460R |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152328247T>C |
cDNA | c.1379A>G |
Protein | p.H460R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |