Gene Variant Detail

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Gene BRAF
Variant S467L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF S467L lies within the protein kinase domain of the Braf protein (UniProt.org). S467L results in impaired Braf kinase activity, but leads to Ras-dependent activation of Erk in cell culture (PMID: 28783719) and increased cell proliferation and cell viability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF S467L

BRAF mutant BRAF S467X BRAF S467L

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Transcript NM_004333.6
gDNA chr7:g.140781608G>A
cDNA c.1400C>T
Protein p.S467L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
NM_004333 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781608G>A c.1400C>T p.S467L RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781608G>A c.1400C>T p.S467L 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
BRAF S467L loss of function - predicted