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Gene | BRAF |
Variant | L584P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF L584P lies within the protein kinase domain of the Braf protein (UniProt.org). L584P has been identified in the scientific literature (PMID: 31569065), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF L584P |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753384A>G |
cDNA | c.1751T>C |
Protein | p.L584P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753384A>G | c.1751T>C | p.L584P | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753384A>G | c.1751T>C | p.L584P | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753384A>G | c.1751T>C | p.L584P | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140753282_140753283delTTinsCC | c.1750_1751delTTinsCC | p.L584P | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753384A>G | c.1751T>C | p.L584P | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753384A>G | c.1751T>C | p.L584P | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753384A>G | c.1751T>C | p.L584P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF G469A BRAF L584P | melanoma | predicted - sensitive | Dabrafenib + Trametinib | Case Reports/Case Series | Actionable | In a clinical case study, Mekinist (trametinib) and Tafinlar (dabrafenib) combination treatment resulted in decrease in metastatic lesions and a partial response with 94% reduction at three months and continued metabolic response at six months in a patient with metastatic melanoma harboring BRAF G469A and BRAF L584P (PMID: 31569065). | 31569065 |