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| Gene | BRAF |
| Variant | N581I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF N581I lies within the protein kinase domain of the Braf protein (UniProt.org). N581I results in low Braf kinase activity and Ras-dependent activation of Erk signaling in cell culture (PMID: 28783719), however, also results in increased transformation ability compared to wild-type Braf in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF N581X BRAF N581I |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753393T>A |
| cDNA | c.1742A>T |
| Protein | p.N581I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753393T>A | c.1742A>T | p.N581I | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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