Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B3
Variant:p.E1081Q
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ATP2B3

NM_001001344.3:p.E1081Q

Associated Papers

Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.

Ertorer ME et al.

Scientific Reports, 2025

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

Vallese F et al.

Cell Death & Disease, 2022

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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."