Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.K589R
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ATXN1

NM_001128164.2:p.K589R

Associated Papers

The Role of Protein Quantity Control in Polyglutamine Spinocerebellar Ataxias.

Zhang H et al.

Cerebellum (london, England), 2024

A key lysine residue in the AXH domain of ataxin-1 is essential for its ubiquitylation.

Kang AR et al.

Biochimica Et Biophysica Acta, 2015

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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."