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 | N581S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF N581S lies within the protein kinase domain of the Braf protein (UniProt.org). N581S has been identified as a secondary resistance mutation (PMID: 32553555), and results in intermediate Braf kinase activity (PMID: 15035987) as well as low Braf kinase activity (PMID: 28783719), and results in Ras-dependent activation of Erk signaling in cell culture (PMID: 28783719), however in another study, demonstrates increased transformation ability in one of two different cell lines compared to wild-type Braf (PMID: 29533785), and therefore, its effect on Braf protein function is unknown. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
BRAF mutant BRAF N581X BRAF N581S |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753393T>C |
| cDNA | c.1742A>G |
| Protein | p.N581S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378468.1 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753393T>C | c.1742A>G | p.N581S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF N581S | unknown | |
| BRAF N581S NRAS Q61R |