Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.E133K
Back to variants list

SOD1

NM_000454.5:p.E133K

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

SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations.

Tabuchi R et al.

Database : the Journal of Biological Databases and Curation, 2024

Differential Expression of MicroRNAs and Predicted Drug Target in Amyotrophic Lateral Sclerosis.

Patel RB et al.

Journal of Molecular Neuroscience : Mn, 2023

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

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2021

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Tunca C et al.

Human Mutation, 2020

Better survival in female SOD1-mutant patients with ALS: a study of SOD1-related natural history.

Tang L et al.

Translational Neurodegeneration, 2019

A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling.

Malty RH et al.

Cell Systems, 2017

Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations.

Lange DJ et al.

Annals of Neurology, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."