Gene Variant Detail

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Gene BRAF
Variant T599_V600insTT
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions BRAF T599_V600insTT results in the insertion of two threonines (T) in the protein kinase domain of the Braf protein between amino acids 599 and 600 (UniProt.org). T599_V600insTT results in increased Braf kinase activity in an in vitro assay, and increased downstream Mek/Erk signaling in culture (PMID: 21190184).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T599_V600insTT

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Transcript NM_004333.6
gDNA chr7:g.140753340_140753341insTGTTGT
cDNA c.1797_1798insACAACA
Protein p.T599_V600insTT
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753340_140753341insTGTTGT c.1797_1798insACAACA p.T599_V600insTT RefSeq GRCh38/hg38

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