Gene Variant Detail

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Gene BRAF
Variant V600dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions BRAF V600dup (also referred to as T599_V600insV) indicates the insertion of the duplicate amino acid, valine (V)-600, in the protein kinase domain of the Braf protein (UniProt.org). V600dup confers a gain of function to the Braf protein as demonstrated by increased kinase activity and phosphorylation of downstream Mek and Erk, and is transforming in cell culture (PMID: 21190184).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600dup

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Transcript NM_004333.6
gDNA chr7:g.140753335_140753337
cDNA c.1798_1800
Protein p.V600
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753334_140753335insTAC c.1800_1801insGTA p.V600dup RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 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

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Molecular Profile Protein Effect Treatment Approaches
BRAF V600dup gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor