LRRK2 c.2182_2184delinsGAC ;(p.L728D)

Variant ID: 12-40672004-TTG-GAC

NM_198578.3(LRRK2):c.2182_2184delinsGAC;(p.L728D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


LRRK2 binds to the Rab32 subfamily in a GTP-dependent manner via its armadillo domain.

Small Gtpases
McGrath, Emma E; Waschbüsch, Dieter D; Baker, Brian M BM; Khan, Amir R AR
Publication Date: 2021-03

Variant appearance in text: LRRK2: L728D
PubMed Link: 31552791
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of LRRK2 or Casein Kinase 1 Results in LRRK2 Protein Destabilization.

Molecular Neurobiology
De Wit, T T; Baekelandt, V V; Lobbestael, E E
Publication Date: 2019-08

Variant appearance in text: LRRK2: L728D
PubMed Link: 30592011
Variant Present in the following documents:
  • Main text
View BVdb publication page



RAB7L1-Mediated Relocalization of LRRK2 to the Golgi Complex Causes Centrosomal Deficits via RAB8A.

Frontiers In Molecular Neuroscience
Madero-Pérez, Jesús J; Fernández, Belén B; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Lobbestael, Evy E; Baekelandt, Veerle V; Hilfiker, Sabine S
Publication Date: 2018

Variant appearance in text: LRRK2: L728D
PubMed Link: 30483055
Variant Present in the following documents:
  • Main text
  • fnmol-11-00417.pdf
View BVdb publication page



Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

The Embo Journal
Purlyte, Elena E; Dhekne, Herschel S HS; Sarhan, Adil R AR; Gomez, Rachel R; Lis, Pawel P; Wightman, Melanie M; Martinez, Terina N TN; Tonelli, Francesca F; Pfeffer, Suzanne R SR; Alessi, Dario R DR
Publication Date: 2018-01-04

Variant appearance in text: LRRK2: L728D
PubMed Link: 29212815
Variant Present in the following documents:
  • Main text
  • EMBJ-37-1-s003.pdf
  • EMBJ-37-1-s006.pdf
  • EMBJ-37-1.pdf
  • EMBJ-37-1-s004.pdf
View BVdb publication page