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Gene | BRAF |
Variant | G593D |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF G593D lies within the protein kinase domain of the Braf protein (UniProt.org). G593D results in similar Erk1/2 and Braf phosphorylation as wild-type Braf (PMID: 32059434), and therefore, is predicted to have no effect on Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G593D |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753357C>T |
cDNA | c.1778G>A |
Protein | p.G593D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753357C>T | c.1778G>A | p.G593D | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140753290_140753291delGAinsAC | c.1778_1779delGAinsAC | p.G593D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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