Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene BRAF
Variant V47_D380del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_D380del results in the deletion of 334 amino acids of the Braf protein from amino acids 47 to 380 (UniProt.org). V47_D380del (reported as internal deletion of exons 2-8) has been associated with resistance to Mek inhibitors in a patient (PMID: 29171936), and is predicted to lead to a gain of Braf protein function due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V47_D380del

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_004333.6
gDNA chr7:g.140794308_140850212del55905
cDNA c.141_1140+2del55905
Protein p.V47_D380del334
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012558.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_004333 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140794317_140850212del55896 c.139_1140del55896 p.V47_V380del334 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140785690_140834818del49129 c.139_1140del49129 p.L47_R380del334 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140781604_140850212del68609 c.140_1141del68609 p.V47_F380del334 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140783093_140834872del51780 c.143_1144del51780 p.Y48_A381del334 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140783039_140834818del51780 c.139_1140del51780 p.L47_S380del334 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140794308_140850212del55905 c.141_1140+2del55905 p.V47_D380del334 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140783039_140834818del51780 c.139_1140del51780 p.L47_S380del334 RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140753281_140800369del47089 c.140_1141del47089 p.S47_L380del334 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V47_D380del melanoma predicted - resistant Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, a melanoma patient developed progressive disease after initial response to Tafinlar (dabrafenib) and Mekinist (trametinib) combination treatment, BRAF V47_D380del was identified as an acquired mutation in the progressing lesion along with mutations presented in both primary and progressing lesions, including BRAF V600E, PTEN G129E, CDKN2A/B loss, and TERT promoter mutations (PMID: 29171936). 29171936