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Gene BRAF
Variant V47_G327del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_G327del results in the deletion of 281 amino acids of the Braf protein from amino acids 47 to 327 (UniProt.org). V47_G327del (reported as internal deletion of exons 2-7) 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_G327del

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Transcript NM_004333.6
gDNA chr7:g.140794468_140850213del55746
cDNA c.139_981del55746
Protein p.V47_G327del281
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420770.1 chr7:g.140754233_140800369del46137 c.140_982del46137 p.S47_D327del281 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140794311_140834818del40508 c.139_981del40508 p.L47_I327del281 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140800370_140850212del49843 c.139_981del49843 p.V47_D327del281 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140794365_140834872del40508 c.139_981del40508 p.A47_D327del281 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140794311_140834818del40508 c.139_981del40508 p.L47_I327del281 RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140794311_140834818del40508 c.139_981del40508 p.L47_I327del281 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140783090_140850212del67123 c.139_981del67123 p.V47_A327del281 RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38
NM_004333 chr7:g.140794468_140850213del55746 c.139_981del55746 p.V47_G327del281 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
BRAF V47_G327del gain of function - predicted