LRRK2 c.1847A>G ;(p.K616R)

Variant ID: 12-40668701-A-G

NM_198578.3(LRRK2):c.1847A>G;(p.K616R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Brain And Behavior
Do, Minh Duc MD; Tran, Tai Ngoc TN; Luong, An Bac AB; Le, Linh Hoang Gia LHG; Van Le, Tuan T; Le, Khuong Thai KT; Van Vo, Niem Thanh NT; Le, Thuc-Nhi Nguyen TN; Vu, Hoang Anh HA; Mai, Thao Phuong TP
Publication Date: 2023-03-06

Variant appearance in text: LRRK2: 1847A>G; Lys616Arg; rs281865042
PubMed Link: 36879366
Variant Present in the following documents:
  • Main text
  • BRB3-13-e2950.pdf
View BVdb publication page



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: Lys616Arg
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12

Variant appearance in text: LRRK2: K616R; rs281865042
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08

Variant appearance in text: LRRK2: K616R; rs281865042
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LRRK2: 1847A>G; Lys616Arg; rs281865042
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fava, Vinicius M VM; Xu, Yong Zhong YZ; Lettre, Guillaume G; Van Thuc, Nguyen N; Orlova, Marianna M; Thai, Vu Hong VH; Tao, Shao S; Croteau, Nathalie N; Eldeeb, Mohamed A MA; MacDougall, Emma J EJ; Cambri, Geison G; Lahiri, Ramanuj R; Adams, Linda L; Fon, Edward A EA; Trempe, Jean-François JF; Cobat, Aurélie A; Alcaïs, Alexandre A; Abel, Laurent L; Schurr, Erwin E
Publication Date: 2019-07-30

Variant appearance in text: LRRK2: K616R; rs281865042
PubMed Link: 31308240
Variant Present in the following documents:
  • Main text
View BVdb publication page