Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.S73L
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PINK1

NM_032409.3:p.S73L

Associated Papers

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445612 (PubMed )
Supplement: media-1.pdf

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable4

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Gunasekaran A et al.

Journal of Movement Disorders, 2024

39294919 (PubMed )
Supplement: jmd-24157-Supplementary-Table-1.pdf

MTSviewer: A database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures.

Bayne AN et al.

Plos One, 2023

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

32019516 (PubMed )
Supplement: 12881_2020_953_MOESM8_ESM.xlsx › Variants_identified_in_PD_genes

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Gustavsson EK et al.

Movement Disorders Clinical Practice, 0

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