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LRRK2 c.4027_4028delinsGG ;(p.T1343G)
Variant ID: 12-40702336-AC-GG
NM_198578.3(
LRRK2
):c.4027_4028delinsGG;(p.T1343G)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
LRRK2 Phosphorylation, More Than an Epiphenomenon.
Frontiers In Neuroscience
Marchand, Antoine A; Drouyer, Matthieu M; Sarchione, Alessia A; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2020
Variant appearance in text: LRRK2: T1343G
PubMed Link:
32612495
Variant Present in the following documents:
Main text
fnins-14-00527.pdf
View BVdb publication page
Understanding the GTPase Activity of LRRK2: Regulation, Function, and Neurotoxicity.
Advances In Neurobiology
Nguyen, An Phu Tran AP; Moore, Darren J DJ
Publication Date: 2017
Variant appearance in text: LRRK2: T1343G
PubMed Link:
28353279
Variant Present in the following documents:
Main text
View BVdb publication page
Protective LRRK2 R1398H Variant Enhances GTPase and Wnt Signaling Activity.
Frontiers In Molecular Neuroscience
Nixon-Abell, Jonathon J; Berwick, Daniel C DC; GrannĂ³, Simone S; Spain, Victoria A VA; Blackstone, Craig C; Harvey, Kirsten K
Publication Date: 2016
Variant appearance in text: LRRK2: T1343G
PubMed Link:
27013965
Variant Present in the following documents:
Main text
fnmol-09-00018.pdf
View BVdb publication page
GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1.
Plos Genetics
Stafa, Klodjan K; Trancikova, Alzbeta A; Webber, Philip J PJ; Glauser, Liliane L; West, Andrew B AB; Moore, Darren J DJ
Publication Date: 2012
Variant appearance in text: LRRK2: T1343G
PubMed Link:
22363216
Variant Present in the following documents:
Main text
View BVdb publication page
Models for LRRK2-Linked Parkinsonism.
Parkinson'S Disease
Li, Tianxia T; Yang, Dejun D; Sushchky, Sarah S; Liu, Zhaohui Z; Smith, Wanli W WW
Publication Date: 2011
Variant appearance in text: LRRK2: T1343G
PubMed Link:
21603132
Variant Present in the following documents:
Main text
PD2011-942412.pdf
View BVdb publication page
GTPase activity plays a key role in the pathobiology of LRRK2.
Plos Genetics
Xiong, Yulan Y; Coombes, Candice E CE; Kilaru, Austin A; Li, Xiaojie X; Gitler, Aaron D AD; Bowers, William J WJ; Dawson, Valina L VL; Dawson, Ted M TM; Moore, Darren J DJ
Publication Date: 2010-04-08
Variant appearance in text: LRRK2: T1343G
PubMed Link:
20386743
Variant Present in the following documents:
Main text
View BVdb publication page
The Parkinson's disease kinase LRRK2 autophosphorylates its GTPase domain at multiple sites.
Biochemical And Biophysical Research Communications
Greggio, Elisa E; Taymans, Jean-Marc JM; Zhen, Eugene Yuejun EY; Ryder, John J; Vancraenenbroeck, Renée R; Beilina, Alexandra A; Sun, Peng P; Deng, Junpeng J; Jaffe, Howard H; Baekelandt, Veerle V; Merchant, Kalpana K; Cookson, Mark R MR
Publication Date: 2009-11-20
Variant appearance in text: LRRK2: T1343G
PubMed Link:
19733152
Variant Present in the following documents:
Main text
View BVdb publication page
Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Deng, Junpeng J; Lewis, Patrick A PA; Greggio, Elisa E; Sluch, Eli E; Beilina, Alexandra A; Cookson, Mark R MR
Publication Date: 2008-02-05
Variant appearance in text: LRRK2: T1343G
PubMed Link:
18230735
Variant Present in the following documents:
Main text
View BVdb publication page