Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A383T
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PRKN

NM_004562.3:p.A383T

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

Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.

Dong J et al.

Journal of Ovarian Research, 2024

38937827 (PubMed )
Supplement: 13048_2024_1455_MOESM7_ESM.xlsx › Table_S2

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K et al.

Nature Communications, 2016

27231142 (PubMed )
Supplement: ncomms11601-s1.pdf

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 mutations and parkinsonism.

Ishihara-Paul L et al.

Neurology, 2008

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 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."