Gene Variant Detail

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Gene BRAF
Variant G466V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF G466V lies within the protein kinase domain of the Braf protein (UniProt.org). G466V results in impaired Braf kinase activity, but paradoxically activates MEK and ERK through transactivation of CRAF in cell culture (PMID: 22649091, PMID: 28783719), and in one of two cell lines, G466V decreased cell proliferation and cell viability as compared to wild-type Braf (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G466X BRAF G466V

BRAF mutant BRAF inact mut BRAF G466V

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Transcript NM_004333.6
gDNA chr7:g.140781611C>A
cDNA c.1397G>T
Protein p.G466V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378471.1 chr7:g.140778000C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140777053C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_004333 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140777053C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781611C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778075C>A c.1397G>T p.G466V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781611C>A c.1397G>T p.G466V 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
BRAF G466V loss of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor LY3009120
BRAF G466V NRAS Q61K