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 | K601E |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF K601E lies within the activation segment in the kinase domain of the Braf protein (PMID: 15343278). K601E results in increased Braf kinase activity and downstream activation of MEK and ERK in cell culture (PMID: 22798288, PMID: 28783719, PMID: 32059434), and induces cell proliferation and cell viability in culture (PMID: 29533785, PMID: 18697864). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601E BRAF mutant BRAF K601X BRAF K601E |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753334T>C |
| cDNA | c.1801A>G |
| Protein | p.K601E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753334T>C | c.1801A>G | p.K601E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF K601E | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |
| BRAF S363F BRAF K601E | ||
| BRAF K601E MAP2K1 V211D |