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 | K601N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF K601N lies within the protein kinase domain of the Braf protein (UniProt.org). K601N confers a gain of function on Braf, as indicated by increased phosphorylation of MEK and ERK in cell in culture (PMID: 24434212) and induction of cell proliferation and cell viability in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601N BRAF mutant BRAF K601X BRAF K601N |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753332T>G |
cDNA | c.1803A>C |
Protein | p.K601N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753332T>G | c.1803A>C | p.K601N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF K601N | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |