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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 |
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_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 |
NM_004333.5 | 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 | 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 |
XM_005250045 | chr7:g.140753340_140753341insTGTTGT | c.1797_1798insACAACA | p.T599_V600insTT | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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