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LRRK2 c.6103A>G ;(p.T2035A)
Variant ID: 12-40734250-A-G
NM_198578.3(
LRRK2
):c.6103A>G;(p.T2035A)
This variant was identified in 7 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: T2035A
PubMed Link:
32612495
Variant Present in the following documents:
Main text
fnins-14-00527.pdf
View BVdb publication page
GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.
Human Molecular Genetics
Blanca Ramírez, Marian M; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Madero-Pérez, Jesús J; Gonnelli, Adriano A; Drouyer, Matthieu M; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Bubacco, Luigi L; Greggio, Elisa E; Hilfiker, Sabine S
Publication Date: 2017-07-15
Variant appearance in text: LRRK2: T2035A
PubMed Link:
28453723
Variant Present in the following documents:
Main text
ddx161.pdf
View BVdb publication page
Lack of correlation between the kinase activity of LRRK2 harboring kinase-modifying mutations and its phosphorylation at Ser910, 935, and Ser955.
Plos One
Ito, Genta G; Fujimoto, Tetta T; Kamikawaji, Shogo S; Kuwahara, Tomoki T; Iwatsubo, Takeshi T
Publication Date: 2014
Variant appearance in text: LRRK2: T2035A
PubMed Link:
24836358
Variant Present in the following documents:
Main text
pone.0097988.pdf
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: T2035A
PubMed Link:
21603132
Variant Present in the following documents:
Main text
PD2011-942412.pdf
View BVdb publication page
Reevaluation of phosphorylation sites in the Parkinson disease-associated leucine-rich repeat kinase 2.
The Journal Of Biological Chemistry
Li, Xiaojie X; Moore, Darren J DJ; Xiong, Yulan Y; Dawson, Ted M TM; Dawson, Valina L VL
Publication Date: 2010-09-17
Variant appearance in text: LRRK2: T2035A
PubMed Link:
20595391
Variant Present in the following documents:
Main text
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: T2035A
PubMed Link:
20386743
Variant Present in the following documents:
Main text
View BVdb publication page
The Parkinson disease-associated leucine-rich repeat kinase 2 (LRRK2) is a dimer that undergoes intramolecular autophosphorylation.
The Journal Of Biological Chemistry
Greggio, Elisa E; Zambrano, Ibardo I; Kaganovich, Alice A; Beilina, Alexandra A; Taymans, Jean-Marc JM; Daniëls, Veronique V; Lewis, Patrick P; Jain, Shushant S; Ding, Jinhui J; Syed, Ali A; Thomas, Kelly J KJ; Baekelandt, Veerle V; Cookson, Mark R MR
Publication Date: 2008-06-13
Variant appearance in text: LRRK2: T2035A
PubMed Link:
18397888
Variant Present in the following documents:
Main text
View BVdb publication page