Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B3
Variant:p.R35C
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ATP2B3

NM_001001344.3:p.R35C

Associated Papers

Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia?

Peggion C et al.

Biology Direct, 2025

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.

Figueroa KP et al.

Human Molecular Genetics, 2023

The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.

Vallese F et al.

Cell Death & Disease, 2022

Evidence for a role of plasma membrane calcium pumps in neurodegenerative disease: Recent developments.

Strehler EE et al.

Neuroscience Letters, 2018

Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia.

Figueroa KP et al.

Disease Models & Mechanisms, 2016

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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."