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Gene | BRAF |
Variant | V169_D380del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF V169_D380del results in the deletion of 212 amino acids of the Braf protein from amino acids 169 to 380 (UniProt.org). V169_D380del (reported as internal deletion of exons 4-8) has not been characterized, however, due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612, PMID: 29171936), is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF V169_D380del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140794308_140808995del14688 |
cDNA | c.508_1140+3del14688 |
Protein | p.V169_D380del212 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |