FBXW7 D527G
Gene Variant Detail

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Gene FBXW7
Variant D527G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 D527G lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D527G retains the ability to target Myc, Mcl-1, Braf, and Cyclin E for degradation (PMID: 32907612 , PMID: 27247421), binds to the large T antigen of Merkel cell polyomavirus similar to wild-type Fbxw7, and demonstrates increased binding to small T antigen in culture (PMID: 32427880), but results in decreased binding to Mlst8 (PMID: 34741373), fails to bind and degrade NICD in cultured cells leading to increased Notch transcriptional activity in a reporter assay, and results in transformation in the context of the viral protein, Tax, in culture (PMID: 27247421), 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 D527G

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Transcript NM_001349798.2
gDNA chr4:g.152326070T>C
cDNA c.1580A>G
Protein p.D527G
Source Database RefSeq
Genome Build GRCh38/hg38

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