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Gene BRAF
Variant V600_R603del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions BRAF V600_R603del results in the deletion of four amino acids of the Braf protein from amino acids 600 to 603 (UniProt.org). V600_R603del confers a gain of function to the Braf protein as demonstrated by increased downstream phosphorylation in culture, increased kinase activity in in vitro analyses, and induces TSH-independent proliferation in culture (PMID: 18697864).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600_R603del

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Transcript NM_004333.6
gDNA chr7:g.140753327_140753338del12
cDNA c.1798_1809del12
Protein p.V600_R603del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140753327_140753338del12 c.1798_1809del12 p.V600_R603del RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753327_140753338del12 c.1798_1809del12 p.V600_R603del RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753327_140753338del12 c.1798_1809del12 p.V600_R603del RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753327_140753338del12 c.1798_1809del12 p.V600_R603del 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 Protein Effect Treatment Approaches
BRAF V600_R603del gain of function