Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.E22Q
Back to variants list

SOD1

NM_000454.5:p.E22Q

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

Exploring the complexity of amyloid-beta fibrils: structural polymorphisms and molecular interactions.

Baek Y et al.

Biochemical Society Transactions, 2024

The role of the half-turn in determining structures of Alzheimer's Aβ wild-type and mutants.

Hayward S et al.

Journal of Structural Biology, 2021

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

Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant.

Querin G et al.

Revue Neurologique, 2017

PITRM1 interaction studies with amyloidogenic nonapeptide mutants of familial Alzheimer's disease.

Wilson Alphonse CR et al.

Journal of Biomolecular Structure & Dynamics, 0

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."