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 | D287H |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | BRAF D287H does not lie within any known functional domains of the Braf protein (UniProt.org). D287H results in impaired Braf kinase activity, but leads to Ras-dependent activation of Erk in cell culture (PMID: 26343582, PMID: 28783719). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF inact mut BRAF D287H |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140801413C>G |
| cDNA | c.859G>C |
| Protein | p.D287H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047420769.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_017012558 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001378471.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001374258.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_017012559.2 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001378467.1 | chr7:g.140801422C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001378469.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_047420768.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_017012558.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_017012559.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001374244.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_047420767.1 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| XM_017012559 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140801413C>G | c.859G>C | p.D287H | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|