BRAF T599dup
Gene Variant Detail

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Gene BRAF
Variant T599dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions BRAF T599dup (also referred to T599_V600insT) indicates the insertion of the duplicate amino acid, threonine (T)-599, in the protein kinase domain of the Braf protein (UniProt.org). T599dup results in increased kinase activity (PMID: 21190184), increased phosphorylation of Mek and Erk, and transformation in cell culture (PMID: 21190184, PMID: 38662982).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T599dup

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Transcript NM_004333.6
gDNA chr7:g.140753338_140753340dupTGT
cDNA c.1795_1797dupACA
Protein p.T599dup
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753338_140753340 c.1795_1797 p.T599 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
NM_004333 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749326_140749328 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753338_140753340dupTGT c.1795_1797dupACA p.T599dup RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749326_140749328 c.1795_1797 p.T599 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753338_140753340 c.1795_1797 p.T599 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 )
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Sorting

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Molecular Profile Protein Effect Treatment Approaches
BRAF T599dup gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor