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Gene | BRAF |
Variant | E451K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF E451K does not lie within any known functional domains of the Braf protein (UniProt.org). E451K is predicted to lead to a gain of Braf protein function as indicated by intermediate increase of Erk phosphorylation in culture, and is associated with resistance to Raf inhibitors (PMID: 31158244). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF E451K |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781657C>T |
cDNA | c.1351G>A |
Protein | p.E451K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781657C>T | c.1351G>A | p.E451K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF E451K | gain of function - predicted |