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@genomenon.com
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_004333.5 | 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_001378474.1 | 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_001354609.2 | 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 | Protein Effect | Treatment Approaches |
---|---|---|
BRAF V600X | unknown | BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan) |
BRAF V600X PIK3CA H1047X | ||
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R | ||
BRAF V600X BRAF amp NRAS Q61K | ||
BRAF V600X PTEN H93D | ||
BRAF V600X PTEN neg | ||
BRAF V600X PIK3CA H1047R PTEN Y68fs | ||
BRAF V600X NRAS mut |