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LRRK2 c.6094_6095inv ;(p.S2032E)
Variant ID: 12-40734241-TC-GA
NM_198578.3(
LRRK2
):c.6094_6095inv;(p.S2032E)
This variant was identified in 3 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: S2032E
PubMed Link:
32612495
Variant Present in the following documents:
Main text
fnins-14-00527.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: S2032E
PubMed Link:
20595391
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; Daniƫls, 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: S2032E
PubMed Link:
18397888
Variant Present in the following documents:
Main text
View BVdb publication page