LRRK2 c.6922A>G ;(p.N2308D)

Variant ID: 12-40753140-A-G

NM_198578.3(LRRK2):c.6922A>G;(p.N2308D)

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: N2308D
PubMed Link: 35950872
Variant Present in the following documents:
  • Main text
  • BCJ-479-1759-s1.pdf
  • BCJ-479-1759.pdf
View BVdb publication page



Crystal structure of the WD40 domain dimer of LRRK2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Pengfei P; Fan, Ying Y; Ru, Heng H; Wang, Li L; Magupalli, Venkat Giri VG; Taylor, Susan S SS; Alessi, Dario R DR; Wu, Hao H
Publication Date: 2019-01-29

Variant appearance in text: LRRK2: N2308D
PubMed Link: 30635421
Variant Present in the following documents:
  • Main text
  • pnas.201817889.pdf
View BVdb publication page