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Gene | BRAF |
Variant | T488_P492del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF T488_P492del results in the deletion of five amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein from amino acids 488 to 492 (PMID: 26732095). T488_P492del results in activation of Mek in cell culture (PMID: 26996308), and similar Braf deletions are activating (PMID: 26996308, PMID: 26732095), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T488_P492del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778032_140778046del15 |
cDNA | c.1462_1476del15 |
Protein | p.T488_P492delTAPTP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |