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Gene | FBXW7 |
Variant | K11R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 K11R does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). K11R results in slowed Fbxw7 degradation in an in vitro assay (PMID: 33824312), but disruption of the NSL1 function of the Fbxw7 protein in cell culture (PMID: 20815813), 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 K11R |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152411772T>C |
cDNA | c.32A>G |
Protein | p.K11R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |