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Gene | BRAF |
Variant | N581D |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF N581D lies within the protein kinase domain of the Braf protein (UniProt.org). N581D results in transactivation of ELK at comparable levels to wild-type Braf in a reporter assay (PMID: 16474404), and therefore, is predicted to have no effect on Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF N581X BRAF N581D |
Transcript | NM_004333.6 |
gDNA | chr7:g.140754187T>C |
cDNA | c.1741A>G |
Protein | p.N581D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140754187T>C | c.1741A>G | p.N581D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF N581D | lung non-small cell carcinoma | predicted - sensitive | RMC-4550 | Preclinical - Pdx | Actionable | In a preclinical study, RMC-4550 treatment resulted in dose-dependent tumor growth inhibition in patient-derived xenograft (PDX) models of non-small cell lung cancer harboring BRAF N581D (PMID: 30104724). | 30104724 |