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Gene | BRAF |
Variant | T599A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRAF T599A lies within the protein kinase domain of the Braf protein (UniProt.org). T599A does not result in increased MEK or ERK phosphorylation and does not transactivate CRAF (PMID: 22506009), and demonstrates decreased transformation ability compared to wild-type Braf in cell culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF T599A BRAF mutant BRAF T599X BRAF T599A |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753340T>C |
cDNA | c.1795A>G |
Protein | p.T599A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140749328T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749328T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753340T>C | c.1795A>G | p.T599A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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