BRAF V600D
Gene Variant Detail

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Gene BRAF
Variant V600D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600D (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600D confers a gain of function to the Braf protein as demonstrated by increased kinase activity, downstream signaling, and the ability to transform cells in vitro (PMID: 15035987).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600D

BRAF mutant BRAF V600X BRAF V600D

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Transcript NM_004333.6
gDNA chr7:g.140753335_140753336delTGinsAC
cDNA c.1799_1800delTGinsAC
Protein p.V600D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753335_140753336delTGinsAC c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753335_140753336delTGinsAC c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753335_140753336delTGinsAC c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753335_140753336delTGinsAC c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753335_140753336delCAinsGT c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753335_140753336delTGinsAC c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753335_140753336delTGinsAC c.1799_1800delTGinsAC p.V600D RefSeq GRCh38/hg38
NM_004333 chr7:g.140753335_140753336delCAinsGT c.1799_1800delTGinsAC p.V600D 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 V600D gain of function BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan)
BRAF V600D PTEN loss
BRAF V600D NRAS dec exp