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), V47_G393del 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_004333.5
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
XM_017012559.1 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
XM_005250045 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
NM_001354609.1 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38
XM_017012558.1 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 chr7:g.140785807_140850212del64406 c.139_1179del64406 p.V47_A393del347 RefSeq GRCh38/hg38
NM_004333 chr7:g.140783156_140850212del67057 c.139_1179del67057 p.V47_G393del347 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References