Gene Variant Detail

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Gene BRAF
Variant T599K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF T599K lies within the protein kinase domain of the Braf protein (UniProt.org). T599K is predicted to lead to a gain of Braf protein function as demonstrated by increased Erk phosphorylation in culture, and is associated with resistance to Raf inhibitors (PMID: 31158244).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF T599K

BRAF mutant BRAF T599X BRAF T599K

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Transcript NM_004333.6
gDNA chr7:g.140753339G>T
cDNA c.1796C>A
Protein p.T599K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749326_140749327delCTinsAG c.1796_1797delCTinsAG p.T599K RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749326_140749327delCTinsAG c.1796_1797delCTinsAG p.T599K RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753339G>T c.1796C>A p.T599K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF T599K breast cancer predicted - resistant Dabrafenib Preclinical Actionable In a preclinical study, Tafinlar (dabrafenib) treatment did not inhibit Erk phosphorylation in breast cancer cells expressing BRAF T599K in culture (PMID: 31158244). 31158244