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 | A598V |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | BRAF A598V lies within the protein kinase domain of the Braf protein (UniProt.org). A598V is associated with increased activation of Braf and downstream Mek and Erk in tumor samples (PMID: 19200582), and therefore, is predicted to lead to a gain of Braf protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF A598X BRAF A598V BRAF mutant BRAF act mut BRAF A598V |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753342G>A |
| cDNA | c.1793C>T |
| Protein | p.A598V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005250045 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753342G>A | c.1793C>T | p.A598V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BRAF A598V | gain of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |