BRAF A81_D380del
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), 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_004333.6
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
NM_004333 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140785690_140834716del49027 c.241_1140del49027 p.S81_R380del300 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140783039_140834716del51678 c.241_1140del51678 p.S81_S380del300 RefSeq GRCh38/hg38
NM_001378474.1 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_001378473.1 chr7:g.140783039_140834716del51678 c.241_1140del51678 p.S81_S380del300 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140781604_140808995del27392 c.242_1141del27392 p.V81_F380del300 RefSeq GRCh38/hg38
NM_001378471.1 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_047420770.1 chr7:g.140753282_140794374del41093 c.241_1140del41093 p.Q81_L380del300 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_001374244.1 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
NM_001378469.1 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_004333.5 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_001378468.1 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
XM_017012559.2 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140783093_140834770del51678 c.243_1142del51678 p.S82_A381del300 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140794317_140834872del40556 c.241_1140del40556 p.A81_V380del300 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140794308_140834872del40565 c.242_1140+1del40565 p.A81_D380del300 RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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