Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | BRAF |
Variant | V600X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF V600X indicates any BRAF missense mutation that results in replacement of the valine (V) at amino acid 600 by a different amino acid. BRAF V600 mutations are hotspot mutations that often result in increased Braf kinase activity (PMID: 15035987). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF V600X |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753335_140753337 |
cDNA | c.1798_1800 |
Protein | p.V600 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753335_140753337 | c.1798_1800 | p.V600 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600X PIK3CA H1047X | ovarian carcinoma | predicted - sensitive | Bevacizumab + Pegylated liposomal doxorubicin + Temsirolimus | Case Reports/Case Series | Actionable | In a clinical study, the combination of Torisel (temsirolimus) plus Avastin (bevacizumab) and Doxil (pegylated liposomal-doxorubicin) resulted in a partial response in a patient with ovarian clear cell carcinoma harboring PIK3CA H1047 and BRAF V600 mutations (PMID: 21216929). | 21216929 |
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R | melanoma | predicted - resistant | Vemurafenib | Clinical Study - Cohort | Actionable | In a clinical study, a melanoma patient harboring a BRAF V600 mutation developed resistance-associated mutations, MAP2K1 V60E, NRAS T58I, and NRAS Q61R, after 18 weeks of treatment with Zelboraf (vemurafenib) (PMID: 24265153). | 24265153 |
BRAF V600X BRAF amp NRAS Q61K | melanoma | resistant | Vemurafenib | Clinical Study - Cohort | Actionable | In a clinical study, a melanoma patient harboring a BRAF V600 mutation developed resistant mutations, BRAF amplification and NRAS Q61K, during treatment with Zelboraf (vemurafenib) (PMID: 24265153). | 24265153 |
BRAF V600X PTEN H93D | melanoma | predicted - sensitive | Vemurafenib | Clinical Study - Cohort | Actionable | In a clinical study, a melanoma patient harboring a BRAF V600 mutation and PTEN H93D treated with Zelboraf (vemurafenib) for 66 weeks demonstrated a partial response (PMID: 24265153). | 24265153 |
BRAF V600X PTEN neg | melanoma | sensitive | Uprosertib | Preclinical - Cell culture | Actionable | In a preclinical study, lack of PTEN expression was associated with increased sensitivity to GSK2141795 in BRAF V600-mutant melanoma cell lines in culture (PMID: 24265152). | 24265152 |