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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

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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
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012559.2 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140794317_140808995del14679 c.505_1140del14679 p.V169_V380del212 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140781604_140801503del19900 c.505_1140del19900 p.Q169_F380del212 RefSeq GRCh38/hg38
NM_004333 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140783040_140808011del24972 c.508_1143del24972 p.L170_E381del212 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140783093_140808893del25801 c.506_1141del25801 p.G169_K380del212 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140783040_140808011del24972 c.508_1143del24972 p.L170_E381del212 RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140753281_140783116del29836 c.505_1140del29836 p.P169_L380del212 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140785691_140808011del22321 c.506_1141del22321 p.E169_R380del212 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140794308_140808995del14688 c.508_1140+3del14688 p.V169_D380del212 RefSeq GRCh38/hg38

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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