LRRK2 c.2300G>A ;(p.R767H)

Variant ID: 12-40677735-G-A

NM_198578.3(LRRK2):c.2300G>A;(p.R767H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: R767H
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759.pdf
  • BCJ-479-1759-s1.pdf
View BVdb publication page



Genetic variants ofLRRK2 in Taiwanese Parkinson's disease.

Plos One
Wu, Yih-Ru YR; Chang, Kuo-Hsuan KH; Chang, Wen-Teng WT; Hsiao, Ya-Chin YC; Hsu, Hsuan-Chu HC; Jiang, Pei-Ru PR; Chen, Yi-Chun YC; Chao, Chih-Ying CY; Chang, Yi-Chung YC; Lee, Bo-Hsun BH; Hu, Fen-Ju FJ; Chen, Wan-Ling WL; Lee-Chen, Guey-Jen GJ; Chen, Chiung-Mei CM
Publication Date: 2013

Variant appearance in text: LRRK2: R767H
PubMed Link: 24339985
Variant Present in the following documents:
  • Main text
  • pone.0082001.pdf
View BVdb publication page