LRRK2 c.4339G>A ;(p.V1447M)

Variant ID: 12-40704254-G-A

NM_198578.3(LRRK2):c.4339G>A;(p.V1447M)

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: Val1447Met
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 Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

Frontiers In Aging Neuroscience
Hua, Ping P; Zhao, Yuwen Y; Zeng, Qian Q; Li, Lanting L; Ren, Jingru J; Guo, Jifeng J; Tang, Beisha B; Liu, Weiguo W
Publication Date: 2022

Variant appearance in text: LRRK2: 4339G>A; V1447M
PubMed Link: 35645773
Variant Present in the following documents:
  • Main text
  • fnagi-14-849462.pdf
View BVdb publication page