Gene Variant Detail

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Gene BRAF
Variant K601Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF K601Q lies within the activation segment in the kinase domain of the Braf protein (PMID: 19206169). K601Q confers a gain of function on Braf, as indicated by increased MEK and ERK phosphorylation, and is transforming in cell culture (PMID: 19206169, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF K601Q

BRAF mutant BRAF K601X BRAF K601Q

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Transcript NM_004333.6
gDNA chr7:g.140753334T>G
cDNA c.1801A>C
Protein p.K601Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753334T>G c.1801A>C p.K601Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753334T>G c.1801A>C p.K601Q 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