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Gene | BRAF |
Variant | A728V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF A728V (also referred to as A727V) does not lie within any known functional domains of the Braf protein (UniProt.org). A728V results in an intermediate increase in Braf kinase activity compared to wild-type Braf and increased Erk phosphorylation in cell culture (PMID: 15035987). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF A728V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140734715G>A |
cDNA | c.2183C>T |
Protein | p.A728V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378471.1 | chr7:g.140726504G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140734715G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140734715G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140734715G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140734715G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140734715G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140739876G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140734715G>A | c.2183C>T | p.A728V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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