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Gene | BRAF |
Variant | A81_M438del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF A81_M438del results in the deletion of 358 amino acids of the Braf protein from amino acids 81 to 438 (UniProt.org). A81_M438del (reported as internal deletion of exons 3-10) 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_M438del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140783022_140834873del51852 |
cDNA | c.242_1314+1del51852 |
Protein | p.A81_M438del358 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333.5 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140778042_140834720del56679 | c.241_1314del56679 | p.S81_P438del358 | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140781592_140834770del53179 | c.241_1314del53179 | p.A81_Y438del358 | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140781585_140834874del53290 | c.241_1314del53290 | p.A81_K438del358 | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140783031_140834873del51843 | c.241_1314del51843 | p.A81_R438del358 | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140777028_140808995del31968 | c.241_1314del31968 | p.V81_A438del358 | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140739911_140794373del54463 | c.241_1314del54463 | p.Q81_P438del358 | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140778042_140834720del56679 | c.241_1314del56679 | p.S81_P438del358 | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140781658_140834716del53059 | c.241_1314del53059 | p.S81_W438del358 | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140781628_140834872del53245 | c.241_1314del53245 | p.A81_G438del358 | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140783022_140834873del51852 | c.242_1314+1del51852 | p.A81_M438del358 | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140783142_140834873del51732 | c.241_1314del51732 | p.A81_L438del358 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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