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BRAF R239Q - Gene Variant Detail

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Gene BRAF
Variant R239Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF R239Q lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). R239Q has been identified in the scientific literature (PMID: 29903896), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF R239Q

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Transcript NM_004333.6
gDNA chr7:g.140801556C>T
cDNA c.716G>A
Protein p.R239Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012558.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012559 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012558 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38

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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
BRAF R239Q BRAF L597S melanoma sensitive Binimetinib + Encorafenib Preclinical - Pdx & cell culture Actionable In a preclinical study, the addition of Braftovi (encorafenib) to treatment with Mektovi (binimetinib) increased growth inhibition in patient-derived melanoma cells harboring BRAF L597S, as well as BRAF R239Q, in culture, and resulted in tumor shrinkage in 67% of tumors, increased inhibition of ERK phosphorylation, and increased tumor growth delay compared to either agent alone in a patient-derived xenograft (PDX) model (PMID: 29903896). 29903896
BRAF R239Q BRAF L597S melanoma sensitive Encorafenib Preclinical - Pdx & cell culture Actionable In a preclinical study, Braftovi (encorafenib) inhibited ERK activation and proliferation of patient-derived melanoma cells harboring BRAF L597S, as well as BRAF R239Q, in culture, and delayed tumor growth and induced shrinkage in 8% (1/12) of tumors in a melanoma patient-derived xenograft (PDX) model (PMID: 29903896). 29903896
BRAF R239Q BRAF L597S melanoma sensitive Binimetinib Preclinical - Pdx & cell culture Actionable In a preclinical study, Mektovi (binimetinib) inhibited growth of patient-derived melanoma cells harboring BRAF L597S, as well as BRAF R239Q, in culture, and induced tumor shrinkage in 25% (3/12) of tumors and delayed tumor growth in a patient-derived xenograft (PDX) model (PMID: 29903896). 29903896
BRAF R239Q BRAF L597S melanoma sensitive Dabrafenib + Trametinib Preclinical - Pdx & cell culture Actionable In a preclinical study, the addition of Tafinlar (dabrafenib) to treatment with Mekinist (trametinib) resulted in increased growth inhibition in a patient-derived melanoma cell line harboring BRAF L597S, as well as well as BRAF R239Q, in culture, and resulted in tumor shrinkage in 100% (13/13) of subcutaneous tumors, and decreased growth of intracranial tumors in a patient-derived xenograft (PDX) model (PMID: 29903896). 29903896