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Gene | FBXW7 |
Variant | G423R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 G423R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G423R results in decreased degradation of Cyclin E1 and Cyclin E2 compared to wild-type Fbxw7 in culture (PMID: 35395208), but does not enhance xenograft tumor growth in animal models (PMID: 24838835), and therefore, its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 G423R |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328359C>T |
cDNA | c.1267G>A |
Protein | p.G423R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |