Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.G28E
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SOD1

NM_000454.5:p.G28E

Associated Papers

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

American Journal of Human Genetics, 2025

40957416 (PubMed )
Supplement: mmc2.xlsx › QuadrantID_aminoacidlevel

Distinct amyloid fibril structures formed by ALS-causing SOD1 mutants G93A and D101N.

Zhang MY et al.

Embo Reports, 2025

40859014 (PubMed )
Supplement: 44319_2025_557_MOESM2_ESM.pdf

Landscapes of missense variant impact for human superoxide dismutase 1.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

40060668 (PubMed )
Supplement: media-2.xlsx › activity_map_scores

Superoxide dismutase 1 is positively selected to minimize protein aggregation in great apes.

Dasmeh P et al.

Cellular and Molecular Life Sciences : Cmls, 2017

The Overexpression of TDP-43 Protein in the Neuron and Oligodendrocyte Cells Causes the Progressive Motor Neuron Degeneration in the SOD1 G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis.

Lu Y et al.

International Journal of Biological Sciences, 2016

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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."