Gene Variant Detail

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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 T599X BRAF T599I

BRAF mutant BRAF act mut BRAF T599I

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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_001378473.1 chr7:g.140749327G>A c.1796C>T p.T599I RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749327G>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_001378474.1 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
NM_004333 chr7:g.140753339G>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_001378468.1 chr7:g.140753339G>A c.1796C>T p.T599I RefSeq GRCh38/hg38
NM_001354609.1 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

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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