Gene Variant Detail

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Gene BRAF
Variant V47_G393del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_G393del results in the deletion of 347 amino acids of the Braf protein from amino acids 47 to 393 (UniProt.org). V47_G393del (reported as internal deletion of exons 2-9) 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 V47_G393del

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Transcript NM_004333.6
gDNA chr7:g.140783156_140850212del67057
cDNA c.139_1179del67057
Protein p.V47_G393del347
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140783120_140834818del51699 c.142_1182del51699 p.L48_L394del347 RefSeq GRCh38/hg38
NM_004333 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140781673_140834818del53146 c.140_1180del53146 p.L47_D393del347 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140783056_140834874del51819 c.139_1179del51819 p.A47_K393del347 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140787555_140850212del62658 c.140_1180del62658 p.V47_G393del347 RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140783045_140850212del67168 c.139_1179del67168 p.V47_S393del347 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140749386_140800369del50984 c.139_1179del50984 p.S47_N393del347 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140783090_140850212del67123 c.139_1179del67123 p.V47_A393del347 RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140778065_140850212del72148 c.142_1182del72148 p.W48_V394del347 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140781673_140834818del53146 c.140_1180del53146 p.L47_D393del347 RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries