Gene Variant Detail

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Gene BRAF
Variant G593D
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions BRAF G593D lies within the protein kinase domain of the Braf protein (UniProt.org). G593D results in similar Erk1/2 and Braf phosphorylation as wild-type Braf (PMID: 32059434), and therefore, is predicted to have no effect on Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G593D

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Transcript NM_004333.6
gDNA chr7:g.140753357C>T
cDNA c.1778G>A
Protein p.G593D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140753290_140753291delGAinsAC c.1778_1779delGAinsAC p.G593D RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
NM_004333 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753357C>T c.1778G>A p.G593D RefSeq GRCh38/hg38

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  • 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