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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). N486_L495del has not been characterized, however, is predicted to lead to a gain of protein 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_004333.6 |
gDNA | chr7:g.140778023_140778052del30 |
cDNA | c.1456_1485del30 |
Protein | p.N486_L495delNVTAPTPQQL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |