Gene Variant Detail

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Gene BRAF
Variant G464V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF G464V (also reported as G463V) lies within the protein kinase domain of the Braf protein (UniProt.org). G464V results in increased Braf kinase activity and increased downstream Mek and Erk activation (PMID: 12068308, PMID: 26343582), and in one of two cell lines, increased cell proliferation and viability compared to wild-type Braf in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF G464V

BRAF mutant BRAF G464X BRAF G464V

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Transcript NM_004333.6
gDNA chr7:g.140781617C>A
cDNA c.1391G>T
Protein p.G464V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_004333 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781617C>A c.1391G>T p.G464V RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781617C>A c.1391G>T p.G464V 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 G464V gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor