LRRK2 c.3643G>A ;(p.A1215T)

Variant ID: 12-40697802-G-A

NM_198578.3(LRRK2):c.3643G>A;(p.A1215T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: LRRK2: A1215T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genome-wide assessment of Parkinson's disease in a Southern Spanish population.

Neurobiology Of Aging
Bandrés-Ciga, Sara S; Price, Timothy Ryan TR; Barrero, Francisco Javier FJ; Escamilla-Sevilla, Francisco F; Pelegrina, Javier J; Arepalli, Sampath S; Hernández, Dena D; Gutiérrez, Blanca B; Cervilla, Jorge J; Rivera, Margarita M; Rivera, Alberto A; Ding, Jing-Hui JH; Vives, Francisco F; Nalls, Michael M; Singleton, Andrew A; Durán, Raquel R
Publication Date: 2016-09

Variant appearance in text: LRRK2: Ala1215Thr; rs143710836
PubMed Link: 27393345
Variant Present in the following documents:
  • Main text
View BVdb publication page