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, tyrosine (T)-599, in the protein kinase domain of the Braf protein (UniProt.org). T599dup 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 T599dup

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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References