Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.E444Q
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PRKN

NM_004562.3:p.E444Q

Associated Papers

Two novel variants of VPS13C gene related Parkinsonism: A case report and literature review.

Jiang Y et al.

Medicine, 2026

Selective localization of Mfn2 near PINK1 enables its preferential ubiquitination by Parkin on mitochondria.

Vranas M et al.

Open Biology, 2022

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › PARK2

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Yi W et al.

Human Molecular Genetics, 2019

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

González-Casacuberta I et al.

Frontiers in Neuroscience, 2019

Parkin structure and function.

Seirafi M et al.

The Febs Journal, 2015

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

Oczkowska A et al.

Current Genomics, 2013

Structure of the human Parkin ligase domain in an autoinhibited state.

Wauer T et al.

The Embo Journal, 2013

Structure of parkin reveals mechanisms for ubiquitin ligase activation.

Trempe JF et al.

Science (new York, N.y.), 2013

Structure and function of Parkin E3 ubiquitin ligase reveals aspects of RING and HECT ligases.

Riley BE et al.

Nature Communications, 2013

23770887 (PubMed )
Supplement: ncomms2982-s1.pdf

Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.

Madegowda RH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

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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."