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Gene | BRAF |
Variant | N486_L495del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF N486_L495del results in the deletion of ten amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein (PMID: 26732095). N486_L495del has not been characterized, however, is predicted to lead to a gain of protein function due to other characterized BRAF deletions in the same region (PMID: 26732095). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF N486_L495del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778023_140778052del30 |
cDNA | c.1456_1485del30 |
Protein | p.N486_L495delNVTAPTPQQL |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378467.1 | chr7:g.140778032_140778061del30 | c.1456_1485del30 | p.K486_P495delKMLNVTAPTP | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140781643_140781672del30 | c.1456_1485del30 | p.S486_G495delSSDDWEIPDG | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495delNVTAPTPQQL | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495del | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140781643_140781672del30 | c.1456_1485del30 | p.S486_G495delSSDDWEIPDG | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140776965_140776994del30 | c.1457_1486del30 | p.Y486_K495delYHHLHIIETK | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140777019_140777048del30 | c.1456_1485del30 | p.S486_T495delSTKPQLAIVT | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140753386_140754208del823 | c.1457_1486del823 | p.H486_F495delHRDLKSNNIF | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495delNVTAPTPQQL | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140777085_140778016del932 | c.1456_1485del932 | p.F486_K495delFKNEVGVLRK | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495delNVTAPTPQQL | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140777010_140777039del30 | c.1456_1485del30 | p.P486_C495delPQLAIVTQWC | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140776965_140776994del30 | c.1457_1486del30 | p.Y486_K495delYHHLHIIETK | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495del | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140777055_140777084del30 | c.1456_1485del30 | p.T486_M495delTRHVNILLFM | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140781643_140781672del30 | c.1456_1485del30 | p.S486_G495delSSDDWEIPDG | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140781643_140781672del30 | c.1456_1485del30 | p.S486_G495delSSDDWEIPDG | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140734699_140734728del30 | c.1457_1486del30 | p.I486_L495delIHRSASEPSL | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495delNVTAPTPQQL | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140781643_140781672del30 | c.1456_1485del30 | p.S486_G495delSSDDWEIPDG | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140778023_140778052del30 | c.1456_1485del30 | p.N486_L495delNVTAPTPQQL | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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