Gene Variant Detail

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Gene BRAF
Variant A81_D380del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF A81_D380del results in the deletion of 300 amino acids of the Braf protein from amino acids 81 to 380 (UniProt.org). A81_D380del (reported as internal deletion of exons 3-8) 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), A81_D380del is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF A81_D380del

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Transcript NM_004333.5
gDNA chr7:g.140794308_140834872del40565
cDNA c.242_1140+1del40565
Protein p.A81_D380del300
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012558 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_004333 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References