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Gene | BRAF |
Variant | E228V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF E228V does not lie within any known functional domains of the Braf protein (UniProt.org). E228V has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Braf in culture (PMID: 29533785), and therefore, is predicted to have no effect on Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF E228V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140807988T>A |
cDNA | c.683A>T |
Protein | p.E228V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017012558.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140807997T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140807988T>A | c.683A>T | p.E228V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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