LRRK2 c.5717A>G ;(p.K1906R)

Variant ID: 12-40722222-A-G

NM_198578.3(LRRK2):c.5717A>G;(p.K1906R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease.

Npj Parkinson'S Disease
Kedariti, Maria M; Frattini, Emanuele E; Baden, Pascale P; Cogo, Susanna S; Civiero, Laura L; Ziviani, Elena E; Zilio, Gianluca G; Bertoli, Federico F; Aureli, Massimo M; Kaganovich, Alice A; Cookson, Mark R MR; Stefanis, Leonidas L; Surface, Matthew M; Deleidi, Michela M; Di Fonzo, Alessio A; Alcalay, Roy N RN; Rideout, Hardy H; Greggio, Elisa E; Plotegher, Nicoletta N
Publication Date: 2022-07-19

Variant appearance in text: LRRK2: K1906R
PubMed Link: 35853899
Variant Present in the following documents:
  • Main text
  • 41531_2022_Article_354.pdf
View BVdb publication page



Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Plos One
Melachroinou, Katerina K; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Memou, Anna A; Hadjigeorgiou, Georgios G; Stefanis, Leonidas L; Rideout, Hardy J HJ
Publication Date: 2016

Variant appearance in text: LRRK2: K1906R
PubMed Link: 27832104
Variant Present in the following documents:
  • Main text
  • pone.0166053.pdf
View BVdb publication page



LRRK2 Parkinson disease mutations enhance its microtubule association.

Human Molecular Genetics
Kett, Lauren R LR; Boassa, Daniela D; Ho, Cherry Cheng-Ying CC; Rideout, Hardy J HJ; Hu, Junru J; Terada, Masako M; Ellisman, Mark M; Dauer, William T WT
Publication Date: 2012-02-15

Variant appearance in text: LRRK2: K1906R
PubMed Link: 22080837
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Parkinson disease protein leucine-rich repeat kinase 2 transduces death signals via Fas-associated protein with death domain and caspase-8 in a cellular model of neurodegeneration.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Ho, Cherry Cheng-Ying CC; Rideout, Hardy J HJ; Ribe, Elena E; Troy, Carol M CM; Dauer, William T WT
Publication Date: 2009-01-28

Variant appearance in text: LRRK2: K1906R
PubMed Link: 19176810
Variant Present in the following documents:
  • Main text
View BVdb publication page