Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.C319S
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TOR1A

NM_000113.3:p.C319S

Associated Papers

TorsinA folding and N-linked glycosylation are sensitive to redox homeostasis.

Honer J et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2021

A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding.

Zhu L et al.

The Journal of Biological Chemistry, 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."