Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G395V
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PINK1

NM_032409.3:p.G395V

Associated Papers

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

39973502 (PubMed )
Supplement: sj-xlsx-2-pkn-10.1177_1877718x241304814.xlsx › Total_PINK1_cases

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

PINK1 rendered temperature sensitive by disease-associated and engineered mutations.

Narendra DP et al.

Human Molecular Genetics, 2013

Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).

Sim CH et al.

Human Mutation, 2012

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

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R et al.

Human Mutation, 2008

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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."