Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.A419V
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LRRK2

NM_198578.4:p.A419V

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

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Deng X et al.

Plos One, 2026

LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson's Cohort: epidemiology and clinical insights.

Goh JW et al.

Npj Parkinson's Disease, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

The LRRK2 p.A419V variant associates with risk of Parkinson's disease in the East Asian population and an evaluation on age of onset.

Lim KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Clinical feature and alpha-synuclein level of restless legs syndrome with leucine-rich repeat kinase 2 encoding gene mutation.

Guo X et al.

Parkinsonism & Related Disorders, 2025

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

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

Clinical features and progression of Parkinson's disease with LRRK2 variants: A prospective study.

Song T et al.

Annals of Clinical and Translational Neurology, 2025

Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.

William MB et al.

Npj Parkinson's Disease, 2024

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

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

Ostrozovicova M et al.

Research Square, 2024

Emerging perspectives on precision therapy for Parkinson's disease: multidimensional evidence leading to a new breakthrough in personalized medicine.

Wang Q et al.

Frontiers in Aging Neuroscience, 2024

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.

Usenko TS et al.

Gene, 2023

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population.

Pan H et al.

Npj Parkinson's Disease, 2023

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

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

Kalogeropulou AF et al.

The Biochemical Journal, 2022

Structural Insights and Development of LRRK2 Inhibitors for Parkinson's Disease in the Last Decade.

Thakur G et al.

Genes, 2022

Genome Sequencing in the Parkinson Disease Clinic.

Hill EJ et al.

Neurology. Genetics, 2022

Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Lake J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

Analysis of genetic risk factors in Japanese patients with Parkinson's disease.

Kanaya Y et al.

Journal of Human Genetics, 2021

Parkinson's Disease Genetics and Pathophysiology.

Vázquez-Vélez GE et al.

Annual Review of Neuroscience, 2021

A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

Kaiyrzhanov R et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.

Bryant N et al.

Human Molecular Genetics, 2021

Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Herrick MK et al.

Npj Parkinson's Disease, 2021

Negative screening for 12 rare LRRK2 pathogenic variants in a cohort of Nigerians with Parkinson's disease.

Rizig M et al.

Neurobiology of Aging, 2021

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study.

Skorvanek M et al.

Parkinsonism & Related Disorders, 2021

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Chittoor-Vinod VG et al.

International Journal of Molecular Sciences, 2021

Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.

Chen Y et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Zheng R et al.

Molecular Genetics & Genomic Medicine, 2020

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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."