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@genomenon.com

Gene BRAF
Variant V600_W604delinsDG
Impact List indel
Protein Effect unknown
Gene Variant Descriptions BRAF V600_W604delinsDG results in the deletion of five amino acids in the protein kinase domain of the Braf protein from amino acids 488 to 493, combined with the insertion of an aspartic acid (D) and a glycine (G) at the same site (UniProt.org). V600_W604delinsDG results in increased pERK expression in patient samples (PMID: 39107839), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V600_W604delinsDG

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.140753323_140753337delinsACCGTC
cDNA c.1798_1812delinsGACGGT
Protein p.V600_W604delinsDG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753323_140753337delinsACCGTC c.1798_1812delinsGACGGT p.V600_W604delinsDG RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753323_140753337delinsACCGTC c.1798_1812delinsGACGGT p.V600_W604delinsDG RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753323_140753337delinsACCGTC c.1798_1812delinsGACGGT p.V600_W604delinsDG RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753323_140753337delinsACCGTC c.1798_1812delinsGACGGT p.V600_W604delinsDG 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 V600_W604delinsDG glioblastoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, a patient with epithelioid glioblastoma harboring BRAF V600_W604delinsDG responded to treatment with the combination of Tafinlar (dabrafenib) and Mekinist (trametinib) with clinical improvement lasting 3 months (PMID: 39107839). 39107839