Gene Variant Detail

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Gene BRAF
Variant T599R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF T599R lies within the activation segment in the kinase domain of the Braf protein (PMID: 19206169). T599R confers a gain of function on Braf, as indicated by increased MEK and ERK phosphorylation, and is transforming in cell culture (PMID: 19206169, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T599R

BRAF mutant BRAF T599X BRAF T599R

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Transcript NM_004333.6
gDNA chr7:g.140753339G>C
cDNA c.1796C>G
Protein p.T599R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749326_140749327delCTinsGG c.1796_1797delCTinsGG p.T599R RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749326_140749327delCTinsGG c.1796_1797delCTinsGG p.T599R RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_004333 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753339G>C c.1796C>G p.T599R RefSeq GRCh38/hg38

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