Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.V30V
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SOD1

NM_000454.5:p.V30V

Associated Papers

TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.

Hegde RN et al.

The Embo Journal, 2020

32757223 (PubMed )
Supplement: EMBJ-39-e104671-s011.pdf

The endoplasmic reticulum-Golgi pathway is a target for translocation and aggregation of mutant superoxide dismutase linked to ALS.

Urushitani M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.

Radunovíc A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 1996

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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."