Gene Variant Detail

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Gene BRAF
Variant K601E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF K601E lies within the activation segment in the kinase domain of the Braf protein (PMID: 15343278). K601E results in increased Braf kinase activity and downstream activation of MEK and ERK in cell culture (PMID: 22798288, PMID: 28783719, PMID: 32059434), and induces cell proliferation and cell viability in culture (PMID: 29533785, PMID: 18697864).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF K601E

BRAF mutant BRAF K601X BRAF K601E

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Transcript NM_004333.6
gDNA chr7:g.140753334T>C
cDNA c.1801A>G
Protein p.K601E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_004333 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753334T>C c.1801A>G p.K601E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03244956 Phase II Trametinib Dabrafenib + Trametinib Efficacy of MEK (Trametinib) and BRAFV600E (Dabrafenib) Inhibitors With Radioactive Iodine (RAI) for the Treatment of Refractory Metastatic Differentiated Thyroid Cancer (MERAIODE) Unknown status FRA 0
NCT03843775 Phase Ib/II Binimetinib + Encorafenib A Study of Binimetinib and Encorafenib in Advanced BRAF Mutant Cancers Completed USA 0