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@jax.org
Gene | BRAF |
Variant | N486_L495del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF N486_L495del results in the deletion of ten amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein (PMID: 26732095, UniProt.org). N486_L495de has not been characterized, however, is predicted to result in a gain of function due to other characterized BRAF deletions in the same region (PMID: 26732095). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF N486_L495del |
Transcript | NM_004333.5 |
gDNA | chr7:g.140778023_140778052del30 |
cDNA | c.1456_1485del30 |
Protein | p.N486_L495del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495del | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|