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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_033632.3
gDNA chr4:g.152326070T>C
cDNA c.1580A>G
Protein p.D527G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349798.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
NM_018315.5 chr4:g.152324219T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152326070T>C c.1580A>G p.D527G RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries