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Gene | FBXW7 |
Variant | R689W |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 R689W does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R689W results in increased levels of phosphorylated Rictor, Akt, Gsk, and p70s6 (PMID: 29963728), and decreased interaction with the T244 degron of Myc in the context of an F-box domain deletion in culture (PMID: 35089787), and therefore, is predicted to lead to a loss of Fbxw7 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R689W |
Transcript | NM_033632.3 |
gDNA | chr4:g.152322940G>A |
cDNA | c.2065C>T |
Protein | p.R689W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |