Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A31D
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PRKN

NM_004562.3:p.A31D

Associated Papers

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

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

IKZF1/3 and CRL4CRBN E3 ubiquitin ligase mutations and resistance to immunomodulatory drugs in multiple myeloma.

Barrio S et al.

Haematologica, 2020

Structural analysis of the effects of mutations in Ubl domain of Parkin leading to Parkinson's disease.

Biswas S et al.

Gene, 2020

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

González-Casacuberta I et al.

Frontiers in Neuroscience, 2019

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Oczkowska A et al.

Current Genomics, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain.

Safadi SS et al.

Biochemistry, 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
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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."