Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.K31N
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SOD1

NM_000454.5:p.K31N

Associated Papers

Glycine at Position 93 in SOD1: Mutation-Sensitivity Landscape and Context-Dependent Folding Requirements.

Nam MK et al.

Biochemistry, 2026

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 › ClinVarVariants_LLRps

HAP/ClpP-mediated disaggregation and degradation of Mutant SOD1 aggregates: A potential therapeutic strategy for Amyotrophic lateral sclerosis (ALS).

Tserennadmid B et al.

Biochemical and Biophysical Research Communications, 2025

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

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
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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."