LRRK2 c.1181+284G>A

Variant ID: 12-40645630-G-A

NM_198578.3(LRRK2):c.1181+284G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Leucine Rich Repeat Kinase 2 and Innate Immunity.

Frontiers In Neuroscience
Ahmadi Rastegar, Diba D; Dzamko, Nicolas N
Publication Date: 2020

Variant appearance in text: rs1491938
PubMed Link: 32210756
Variant Present in the following documents:
  • Main text
  • fnins-14-00193.pdf
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Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases.

Plos Neglected Tropical Diseases
Gaschignard, Jean J; Grant, Audrey Virginia AV; Thuc, Nguyen Van NV; Orlova, Marianna M; Cobat, Aurélie A; Huong, Nguyen Thu NT; Ba, Nguyen Ngoc NN; Thai, Vu Hong VH; Abel, Laurent L; Schurr, Erwin E; Alcaïs, Alexandre A
Publication Date: 2016-05

Variant appearance in text: rs1491938
PubMed Link: 27219008
Variant Present in the following documents:
  • Main text
  • pntd.0004345.pdf
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A Missense LRRK2 Variant Is a Risk Factor for Excessive Inflammatory Responses in Leprosy.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Manry, Jérémy J; Cobat, Aurélie A; Orlova, Marianna M; Van Thuc, Nguyen N; Ba, Nguyen Ngoc NN; Thai, Vu Hong VH; Abel, Laurent L; Alcaïs, Alexandre A; Schurr, Erwin E; ,
Publication Date: 2016-02

Variant appearance in text: rs1491938
PubMed Link: 26844546
Variant Present in the following documents:
  • Main text
  • pntd.0004412.pdf
View BVdb publication page



Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

Plos One
Trabzuni, Daniah D; Ryten, Mina M; Emmett, Warren W; Ramasamy, Adaikalavan A; Lackner, Karl J KJ; Zeller, Tanja T; Walker, Robert R; Smith, Colin C; Lewis, Patrick A PA; Mamais, Adamantios A; de Silva, Rohan R; Vandrovcova, Jana J; , ; Hernandez, Dena D; Nalls, Michael A MA; Sharma, Manu M; Garnier, Sophie S; Lesage, Suzanne S; Simon-Sanchez, Javier J; Gasser, Thomas T; Heutink, Peter P; Brice, Alexis A; Singleton, Andrew A; Cai, Huaibin H; Schadt, Eric E; Wood, Nicholas W NW; Bandopadhyay, Rina R; Weale, Michael E ME; Hardy, John J; Plagnol, Vincent V
Publication Date: 2013

Variant appearance in text: rs1491938
PubMed Link: 23967090
Variant Present in the following documents:
  • Main text
  • pone.0070724.pdf
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Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics
Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH
Publication Date: 2009-07

Variant appearance in text: rs1491938
PubMed Link: 19489756
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

Parkinsonism & Related Disorders
Patra, Biswanath B; Parsian, Azemat J AJ; Racette, Brad A BA; Zhao, Jing Hua JH; Perlmutter, Joel S JS; Parsian, Abbas A
Publication Date: 2009-03

Variant appearance in text: rs1491938
PubMed Link: 18752982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium.

Journal Of Medical Genetics
Paisán-Ruíz, C C; Evans, E W EW; Jain, S S; Xiromerisiou, G G; Gibbs, J R JR; Eerola, J J; Gourbali, V V; Hellström, O O; Duckworth, J J; Papadimitriou, A A; Tienari, P J PJ; Hadjigeorgiou, G M GM; Singleton, A B AB
Publication Date: 2006-02

Variant appearance in text: rs1491938
PubMed Link: 16467219
Variant Present in the following documents:
  • Main text
View BVdb publication page