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Gene | BRAF |
Variant | P490_Q494del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF P490_Q494del results in the deletion of five amino acids in the protein kinase domain of the Braf protein from amino acids 490 to 494 (PMID: 26732095). P490_Q494del 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 P490_Q494del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778026_140778040del15 |
cDNA | c.1468_1482del15 |
Protein | p.P490_Q494delPTPQQ |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |