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Gene | BRAF |
Variant | G203_G393del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF G203_G393del results in the deletion of 91 amino acids of the Braf protein from amino acids 203 to 393 (UniProt.org). G203_G393del (reported as internal deletion of exons 5-9) has not been characterized, however, due to the disruption 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 G203_G393del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140783156_140808893del25738 |
cDNA | c.607_1179del25738 |
Protein | p.G203_G393del191 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017012558.1 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140783120_140801509del18390 | c.607_1179del18390 | p.F204_L394del191 | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_001378475.1 | chr7:g.140778065_140800471del22407 | c.609_1181del22407 | p.S204_V394del191 | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140749386_140781687del32302 | c.608_1180del32302 | p.L203_N393del191 | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140781673_140801509del19837 | c.607_1179del19837 | p.L203_D393del191 | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140787556_140808894del21339 | c.608_1180del21339 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140785807_140808893del23087 | c.607_1179del23087 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140783054_140807962del24909 | c.608_1180del24909 | p.F203_K393del191 | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140783045_140808893del25849 | c.607_1179del25849 | p.G203_S393del191 | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140781673_140801509del19837 | c.607_1179del19837 | p.L203_D393del191 | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140783090_140808893del25804 | c.607_1179del25804 | p.G203_A393del191 | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140783156_140808893del25738 | c.607_1179del25738 | p.G203_G393del191 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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