Gene Variant Detail

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Gene BRAF
Variant V600K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600K (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600K confers a gain of function to the Braf protein as demonstrated by increased kinase activity, downstream signaling, and the ability to transform cells in vitro (PMID: 15035987, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600E/K BRAF V600K

BRAF mutant BRAF V600X BRAF V600E/K BRAF V600K

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Transcript NM_004333.6
gDNA chr7:g.140753336_140753337delGTinsAA
cDNA c.1798_1799delGTinsAA
Protein p.V600K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753336_140753337delACinsTT c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753336_140753337delACinsTT c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336_140753337delACinsTT c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753336_140753337delGTinsAA c.1798_1799delGTinsAA p.V600K 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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Molecular Profile Protein Effect Treatment Approaches
BRAF V600K gain of function BRAF Inhibitor MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor RAF Inhibitor (Pan)
BRAF V600K NRAS Q61K
BRAF V600K MAP2K1 P124Q
BRAF V600K MAP2K1 P124L
BRAF V600K MAP2K1 P124S
BRAF del exon4-10 BRAF V600K