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Gene | FBXW7 |
Variant | S227A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 S227A lies within a phosphorylation site in the Fbxw7 protein (PMID: 21147854). S227A confers a loss of function to the Fbxw7 protein as demonstrated by the inability of S227A to induce apoptosis (PMID: 21620836), and reduced degradation of c-Myc and Notch1 intracellular domain relative to wild-type Fbxw7 in culture due to the loss of phosphorylation by Sgk1 (PMID: 21147854). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 S227A |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152346977A>C |
cDNA | c.679T>G |
Protein | p.S227A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |