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 | BRAF |
| Variant | K601T |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | BRAF K601T lies within the activation segment in the kinase domain of the Braf protein (PMID: 15343278). K601T results in increased Braf kinase activity in cell culture (PMID: 28783719), and in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, is predicted to lead to a gain of Braf protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601T BRAF mutant BRAF K601X BRAF K601T |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753333T>G |
| cDNA | c.1802A>C |
| Protein | p.K601T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333.6 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753333T>G | c.1802A>C | p.K601T | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT03843775 | Phase Ib/II | Binimetinib + Encorafenib | A Study of Binimetinib and Encorafenib in Advanced BRAF Mutant Cancers | Completed | USA | 0 |