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 | K601N |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF K601N lies within the protein kinase domain of the Braf protein (UniProt.org). K601N confers a gain of function on Braf, as indicated by increased phosphorylation of MEK and ERK in cell in culture (PMID: 24434212) and induction of cell proliferation and cell viability in culture (PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601N BRAF mutant BRAF K601X BRAF K601N |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753332T>G |
| cDNA | c.1803A>C |
| Protein | p.K601N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354609.1 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF K601N | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |