Gene Variant Detail

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Gene BRAF
Variant A598V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF A598V lies within the protein kinase domain of the Braf protein (UniProt.org). A598V is associated with increased activation of Braf and downstream Mek and Erk in tumor samples (PMID: 19200582), and therefore, is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF A598X BRAF A598V

BRAF mutant BRAF act mut BRAF A598V

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Transcript NM_004333.6
gDNA chr7:g.140753342G>A
cDNA c.1793C>T
Protein p.A598V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
NM_004333 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753342G>A c.1793C>T p.A598V RefSeq GRCh38/hg38

Filtering

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  • 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