Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.R366Q
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PRKN

NM_004562.3:p.R366Q

Associated Papers

Cis or trans: a puzzle of Parkin activation mechanism.

Sherawat M et al.

Essays in Biochemistry, 2026

Mutational Impact on "in-Between-Ring" (IBR) Domain of PARKIN on Protein Stability and Function.

Biswas S et al.

Applied Biochemistry and Biotechnology, 2021

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Morais S et al.

Neurology. Genetics, 2016

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

Marder KS et al.

Archives of Neurology, 2010

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

Wang Y et al.

Archives of Neurology, 2008

Analysis of Sciellin (SCEL) as a candidate gene in esophageal squamous cell carcinoma.

Corona W et al.

Anticancer Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."