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Gene | BRAF |
Variant | T488_P492del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF T488_P492del results in the deletion of five amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein from amino acids 488 to 492 (PMID: 26732095). T488_P492del results in activation of Mek in cell culture (PMID: 26996308), and similar Braf deletions are activating (PMID: 26996308, PMID: 26732095), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T488_P492del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778032_140778046del15 |
cDNA | c.1462_1476del15 |
Protein | p.T488_P492delTAPTP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333.6 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140777997_140778011del15 | c.1462_1476del15 | p.N488_V492delNEVGV | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140777065_140777079del15 | c.1463_1477del15 | p.H488_L492delHVNIL | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140776974_140776988del15 | c.1462_1476del15 | p.H488_I492delHLHII | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140734708_140734722del15 | c.1463_1477del15 | p.R488_E492delRSASE | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140776974_140776988del15 | c.1462_1476del15 | p.H488_I492delHLHII | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140778041_140778055del15 | c.1462_1476del15 | p.L488_A492delLNVTA | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140754188_140754202del15 | c.1462_1476del15 | p.D488_N492delDLKSN | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140777028_140777042del15 | c.1463_1477del15 | p.K488_A492delKPQLA | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140778032_140778046del15 | c.1462_1476del15 | p.T488_P492delTAPTP | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140777019_140777033del15 | c.1463_1477del15 | p.L488_T492delLAIVT | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140781653_140781667del15 | c.1462_1476del15 | p.D488_I492delDDWEI | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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