Varaico: Literature-Extracted Genetic Variants

Gene:LRRK1
Variant:p.S405C
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LRRK1

NM_024652.6:p.S405C

Associated Papers

PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain.

Malik AU et al.

The Biochemical Journal, 2022

R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.

Fan Y et al.

Acta Neuropathologica, 2021

Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.

Malik AU et al.

The Biochemical Journal, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."