Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FBXW7 |
| Variant | T416A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FBXW7 T416A lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). T416A retains the ability to bind and degrade NICD (PMID: 27247421, PMID: 32907612), Myc, Mcl-1, Braf, Cyclin E (PMID: 32907612), and Mlst8 in culture (PMID: 34741373), 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 T416A |
| Transcript | NM_001349798.2 |
| gDNA | chr4:g.152328380T>C |
| cDNA | c.1246A>G |
| Protein | p.T416A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_024454121.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_047415898.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_047415899.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_024454123.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_024454124.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| NM_001349798.2 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| NM_001349798.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_011532085.3 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_047415897.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_024454123.2 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_011532085.2 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_047415901.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_024454122.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_011532084.3 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_047415900.1 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| XM_011532084.2 | chr4:g.152328380T>C | c.1246A>G | p.T416A | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|