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Gene | BRAF |
Variant | M484_N486del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF M484_N486del results in the deletion of three amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein (PMID: 26732095). M484_N486del 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 M484_N486del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778050_140778058delATTCAACAT |
cDNA | c.1450_1458delATGTTGAAT |
Protein | p.M484_N486delMLN |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |