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LRRK2 c.6091A>G ;(p.T2031A)
Variant ID: 12-40734238-A-G
NM_198578.3(
LRRK2
):c.6091A>G;(p.T2031A)
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:
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: T2031A
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: T2031A
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: T2031A
PubMed Link:
20386743
Variant Present in the following documents:
Main text
View BVdb publication page