Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.T40A
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SOD1

NM_000454.5:p.T40A

Associated Papers

SOD1 lactylation impair its enzymatic activity by conformational change to aggravate intervertebral disc degeneration.

Zhang Y et al.

Nature Communications, 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 › QuadrantID_aminoacidlevel

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

SOD1 mediates lysosome-to-mitochondria communication and its dysregulation by amyloid-β oligomers.

Norambuena A et al.

Neurobiology of Disease, 2022

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.

Mehta PR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

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

Dasmeh P et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis.

Nardone R et al.

Zoology (jena, Germany), 2016

Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy.

Zeng R et al.

Journal of Veterinary Internal Medicine, 0

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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."