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Gene | BRAF |
Variant | T599I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF T599I (also reported as T598I) lies within the protein kinase domain of the Braf protein (UniProt.org). T599I results in increased Braf kinase activity, increased downstream Erk signaling (PMID: 15035987), and induces cell proliferation and cell viability in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599I BRAF mutant BRAF T599X BRAF T599I |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753339G>A |
cDNA | c.1796C>T |
Protein | p.T599I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140749327G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753339G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749327G>A | c.1796C>T | p.T599I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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