Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.K257R
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ATXN7

NM_001377405.1:p.K257R

Associated Papers

The Molecular Basis of Spinocerebellar Ataxia Type 7.

Goswami R et al.

Frontiers in Neuroscience, 2022

SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.

Marinello M et al.

Disease Models & Mechanisms, 2019

Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model.

Duncan CE et al.

Molecular Neurodegeneration, 2013

SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.

Janer A et al.

Human Molecular Genetics, 2010

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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."