Varaico: Literature-Extracted Genetic Variants

Gene:PPM1H
Variant:p.D288A
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PPM1H

NM_020700.2:p.D288A

Associated Papers

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.

Chiang CY et al.

Cell Reports, 2025

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson's disease-linked LRRK2 kinase.

Dhekne HS et al.

Elife, 2023

Structural basis for the specificity of PPM1H phosphatase for Rab GTPases.

Waschbüsch D et al.

Embo Reports, 2021

PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins.

Berndsen K et al.

Elife, 2019

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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."