Varaico: Literature-Extracted Genetic Variants

Gene:PIAS1
Variant:p.S510G
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PIAS1

NM_016166.3:p.S510G

Associated Papers

PIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis.

Chang YC et al.

The International Journal of Biochemistry & Cell Biology, 2024

CryoET reveals organelle phenotypes in huntington disease patient iPSC-derived and mouse primary neurons.

Wu GH et al.

Nature Communications, 2023

A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.

Lee YH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."