Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q171*
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PRKN

NM_004562.3:p.Q171*

Associated Papers

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

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

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.

Lubbe SJ et al.

Human Molecular Genetics, 2016

27798102 (PubMed )
Supplement: ddw348_Supp.zip › ddw348-suppl_data › Lubbe_et_al_21092016_suppl_data_HMG_v2.xlsx › Suppl.Table_1

Interleukin-1 Gene Cluster Polymorphisms and its Haplotypes may Predict the Risk to Develop Cervical Cancer in Tunisia.

Zidi S et al.

Pathology Oncology Research : Por, 2015

Interleukin 1β and interleukin 1 receptor antagonist gene polymorphisms and cervical cancer: a meta-analysis.

Wu S et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2014

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

Oczkowska A et al.

Current Genomics, 2013

Interleukin-4 receptor -3223T→C polymorphism is associated with increased gastric adenocarcinoma risk.

Burada F et al.

Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie, 2012

The TNF-α, IL-1B and IL-10 polymorphisms and risk for hepatocellular carcinoma: a meta-analysis.

Yang Y et al.

Journal of Cancer Research and Clinical Oncology, 2011

[Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan].

Aĭtxozhina NA et al.

Genetika, 2011

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

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Brooks J et al.

Journal of Medical Genetics, 2009

Soybean product intake modifies the association between interleukin-10 genetic polymorphisms and gastric cancer risk.

Ko KP et al.

The Journal of Nutrition, 2009

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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."