Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.V30M
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SOD1

NM_000454.5:p.V30M

Associated Papers

Transthyretin Amyloid May Drive Fibrosis and Proliferation of Tenosynovial Fibroblasts in Carpal Tunnel Syndrome.

Yamanaka Y et al.

The Journal of Bone and Joint Surgery. American Volume, 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

The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.

Suthar SK et al.

Brain Sciences, 2023

36672132 (PubMed )
Supplement: brainsci-13-00151-s001.zip › brainsci-2094474-supplementary.pdf

Antisense therapies in neurological diseases.

Brunet de Courssou JB et al.

Brain : a Journal of Neurology, 2022

Uncovering the Mechanism of Aggregation of Human Transthyretin.

Saelices L et al.

The Journal of Biological Chemistry, 2015

Human-murine transthyretin heterotetramers are kinetically stable and non-amyloidogenic. A lesson in the generation of transgenic models of diseases involving oligomeric proteins.

Reixach N et al.

The Journal of Biological Chemistry, 2008

Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation.

Iwai K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."