LRRK2 c.225G>C ;(p.A75=)

Variant ID: 12-40619430-G-C

NM_198578.3(LRRK2):c.225G>C;(p.A75=)

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: A75A
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



LRRK2 variation and Parkinson's disease in African Americans.

Movement Disorders : Official Journal Of The Movement Disorder Society
Ross, Owen A OA; Wilhoite, Greggory J GJ; Bacon, Justin A JA; Soto-Ortolaza, Alexandra A; Kachergus, Jennifer J; Cobb, Stephanie A SA; Puschmann, Andreas A; Vilariño-Güell, Carles C; Farrer, Matthew J MJ; Graff-Radford, Neill N; Meschia, James F JF; Wszolek, Zbigniew K ZK
Publication Date: 2010-09-15

Variant appearance in text: LRRK2: A75A
PubMed Link: 20669299
Variant Present in the following documents:
  • Main text
View BVdb publication page