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Gene BRAF
Variant E648Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF E648Q lies within the protein kinase domain of the Braf protein (UniProt.org). E648Q has not been biochemically characterized, but demonstrates decreased transformation ability compared to wild-type Braf in cell culture (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 E648Q

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Transcript NM_004333.6
gDNA chr7:g.140749337C>G
cDNA c.1942G>C
Protein p.E648Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140749337C>G c.1942G>C p.E648Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140749337C>G c.1942G>C p.E648Q 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 E648Q loss of function - predicted