Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.E133A
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SOD1

NM_000454.5:p.E133A

Associated Papers

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 › abundance_map_scores_LLRps

Regression model for predicting pathogenic properties of SOD1 mutants based on the analysis of conformational stability and conservation of hydrogen bonds.

Alemasov NA et al.

Journal of Molecular Graphics & Modelling, 2017

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.

Keskin I et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017

28325066 (PubMed )
Supplement: supplement_1.docx

Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis.

Hayward LJ et al.

The Journal of Biological Chemistry, 2002

Familial amyotrophic lateral sclerosis-associated mutations decrease the thermal stability of distinctly metallated species of human copper/zinc superoxide dismutase.

Rodriguez JA et al.

The Journal of Biological Chemistry, 2002

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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."