LRRK2 c.7168G>A ;(p.V2390M)

Variant ID: 12-40757343-G-A

NM_198578.3(LRRK2):c.7168G>A;(p.V2390M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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

The Biochemical Journal
Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR
Publication Date: 2022-09-16

Variant appearance in text: LRRK2: Val2390Met
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
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Crystal structure of the WD40 domain dimer of LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Pengfei P; Fan, Ying Y; Ru, Heng H; Wang, Li L; Magupalli, Venkat Giri VG; Taylor, Susan S SS; Alessi, Dario R DR; Wu, Hao H
Publication Date: 2019-01-29

Variant appearance in text: LRRK2: V2390M
PubMed Link: 30635421
Variant Present in the following documents:
  • Main text
  • pnas.1817889116.sapp.pdf
  • pnas.201817889.pdf
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Case-control analysis of LRRK2 protective variants in Essential Tremor.

Scientific Reports
Ng, Adeline S L ASL; Ng, Ebonne Y L EYL; Tan, Yi Jayne YJ; Prakash, Kumar M KM; Au, Wing Lok WL; Tan, Louis C S LCS; Tan, Eng-King EK
Publication Date: 2018-03-28

Variant appearance in text: LRRK2: Val2390Met
PubMed Link: 29593234
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23711.pdf
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Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism.

Neurologia I Neurochirurgia Polska
Konno, Takuya T; Ross, Owen A OA; Wharen, Robert E RE; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK
Publication Date: 2016

Variant appearance in text: LRRK2: V2390M
PubMed Link: 27591066
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Translational Neurodegeneration
Deeb, Wissam W; Hu, Wei W; Almeida, Leonardo L; Patterson, Addie A; Martinez-Ramirez, Daniel D; Wagle Shukla, Aparna A
Publication Date: 2016

Variant appearance in text: LRRK2: V2390M
PubMed Link: 27213042
Variant Present in the following documents:
  • Main text
  • 40035_2016_Article_57.pdf
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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: LRRK2: V2390M
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



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

The Lancet. Neurology
Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,
Publication Date: 2011-10

Variant appearance in text: LRRK2: V2390M; rs79546190
PubMed Link: 21885347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation
Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2010-07

Variant appearance in text: LRRK2: 7168G>A; V2390M
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
View BVdb publication page



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

Biochimica Et Biophysica Acta
Biskup, Saskia S; West, Andrew B AB
Publication Date: 2009-07

Variant appearance in text: LRRK2: V2390M
PubMed Link: 18973807
Variant Present in the following documents:
  • Main text
View BVdb publication page