Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.E50Q
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SOD1

NM_000454.5:p.E50Q

Associated Papers

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 › abundance_map_scores_LLRps

Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.

Sabatelli M et al.

Journal of Neurology, 2024

High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.

Calvo A et al.

Annals of Neurology, 2024

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

38811997 (PubMed )
Supplement: 40035_2024_416_MOESM1_ESM.docx

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2023

38077003 (PubMed )
Supplement: media-4.xlsx › Reported_ALS_or_FTD_mut.

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Martinelli I et al.

Neural Regeneration Research, 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

33630959 (PubMed )
Supplement: pone.0247841.s001.docx

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

Dasmeh P et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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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."