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Gene | BRAF |
Variant | E586K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF E586K (also reported as E585K) lies within the protein kinase domain of the Braf protein (UniProt.org). E586K results in increased Braf kinase activity, and activation of Mek and Erk in cell culture (PMID: 15035987, PMID: 22510884), and increases cell proliferation and viability compared to wild-type Braf in one of two cell lines (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF E586K BRAF mutant BRAF E586X BRAF E586K |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753379C>T |
cDNA | c.1756G>A |
Protein | p.E586K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140749412C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753379C>T | c.1756G>A | p.E586K | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753379C>T | c.1756G>A | p.E586K | 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 |