Gene Variant Detail

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Gene BRAF
Variant K483E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF K483E lies within the protein kinase domain of the Braf protein (UniProt.org). K483E results in increased transformation compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but also results in Erk1/2 phosphorylation level similar to wild-type Braf in culture (PMID: 27799065), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF K483E

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Transcript NM_004333.6
gDNA chr7:g.140778061T>C
cDNA c.1447A>G
Protein p.K483E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420769.1 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_004333 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778061T>C c.1447A>G p.K483E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778061T>C c.1447A>G p.K483E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References