Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.P113P
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PRKN

NM_004562.3:p.P113P

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

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

Ma KY et al.

Npj Parkinson's Disease, 2021

34893635 (PubMed )
Supplement: 41531_2021_258_MOESM1_ESM.pdf

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

GSDM family genes meet autophagy.

Tamura M et al.

The Biochemical Journal, 2015

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

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

Mills RD et al.

Journal of Neurochemistry, 2008

PINK1 protein in normal human brain and Parkinson's disease.

Gandhi S et al.

Brain : a Journal of Neurology, 2006

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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."