Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.V2390M
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LRRK2

NM_198578.4:p.V2390M

Associated Papers

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.

Lim KS et al.

Npj Parkinson's Disease, 2026

41629305 (PubMed )
Supplement: 41531_2026_1265_MOESM2_ESM.xlsx › Supplementary_Table_9

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.

Parlar SC et al.

Npj Parkinson's Disease, 2025

40301370 (PubMed )
Supplement: 41531_2025_934_MOESM1_ESM.xlsx › Supplementary_Data_3

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

A designed ankyrin-repeat protein that targets Parkinson's disease-associated LRRK2.

Dederer V et al.

The Journal of Biological Chemistry, 2024

Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Crystal structure of the WD40 domain dimer of LRRK2.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Case-control analysis of LRRK2 protective variants in Essential Tremor.

Ng ASL et al.

Scientific Reports, 2018

Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.

Monfrini E et al.

Advances in Neurobiology, 2017

Benign tremulous Parkinsonism: a unique entity or another facet of Parkinson's disease?

Deeb W et al.

Translational Neurodegeneration, 2016

Parkinson's disease, genetic variability and the Faroe Islands.

Petersen MS et al.

Parkinsonism & Related Disorders, 2015

Structural and functional in silico analysis of LRRK2 missense substitutions.

Cardona F et al.

Molecular Biology Reports, 2014

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP et al.

Human Mutation, 2012

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Ross OA et al.

The Lancet. Neurology, 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

LRRK2 gene variation and its contribution to Parkinson disease.

Paisán-Ruiz C

Human Mutation, 2009

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

Kaneko H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biskup S et al.

Biochimica Et Biophysica Acta, 2009

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.

Clarimón J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism.

Konno T et al.

Neurologia I Neurochirurgia Polska, 0

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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."