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Gene BRAF
Variant D594_T599dup
Impact List duplication
Protein Effect gain of function
Gene Variant Descriptions BRAF D594_T599dup (also referred to as T599_V600insDFGLAT) results in the insertion of six amino acids in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). D594_T599dup results in increased colony formation and downstream Mek and Erk activation in cultured cells (PMID: 17297294).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF D594_T599dup

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Transcript NM_004333.6
gDNA chr7:g.140753338_140753355
cDNA c.1780_1797
Protein p.D594_T599
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140753340_140753341insTGCAAGACCAAAGTCTGT c.1798_1799insACTTTGGTCTTGCAACAG p.D594_T599dupDFGLAT RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753338_140753355 c.1780_1797 p.D594_T599 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753340_140753341insTGCAAGACCAAAGTCTGT c.1798_1799insACTTTGGTCTTGCAACAG p.D594_T599dupDFGLAT RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753338_140753355 c.1780_1797 p.D594_T599 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753338_140753355 c.1780_1797 p.D594_T599 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753338_140753355 c.1780_1797 p.D594_T599 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753338_140753355 c.1780_1797 p.D594_T599 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753338_140753355 c.1780_1797 p.D594_T599 RefSeq GRCh38/hg38

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