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Gene | FBXW7 |
Variant | W406R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 W406R lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). W406C retains the ability to bind and degrade NICD (PMID: 27247421, PMID: 32907612), Myc, Mcl-1, Braf, and Cyclin E (PMID: 32907612), 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 inhibition of Notch transcriptional activity in a reporter assay (PMID: 27247421), and therefore, its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 W406R |
Transcript | NM_033632.3 |
gDNA | chr4:g.152329692A>T |
cDNA | c.1216T>A |
Protein | p.W406R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415901.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
NM_018315.5 | chr4:g.152326194A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152329692A>T | c.1216T>A | p.W406R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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