LRRK2 c.4264A>C ;(p.S1422R)

Variant ID: 12-40702982-A-C

NM_198578.3(LRRK2):c.4264A>C;(p.S1422R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Genes
Vacchiano, Veria V; Bartoletti-Stella, Anna A; Rizzo, Giovanni G; Avoni, Patrizia P; Parchi, Piero P; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S
Publication Date: 2022-07-22

Variant appearance in text: LRRK2: Ser1422Arg
PubMed Link: 35893043
Variant Present in the following documents:
  • genes-13-01306.pdf
View BVdb publication page



Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Acta Neuropathologica Communications
Smolders, Stefanie S; Van Broeckhoven, Christine C
Publication Date: 2020-05-06

Variant appearance in text: LRRK2: Ser1422Arg
PubMed Link: 32375870
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_935.pdf
View BVdb publication page