Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.D84G
Back to variants list

SOD1

NM_000454.5:p.D84G

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 › Huang2024_ClinicalPhenotypes

Aggregation-Prone Pathogenic SOD1 Variants in Amyotrophic Lateral Sclerosis: Insights from Computational Genomics and Evolutionary Conservation.

Anjum F et al.

Journal of Molecular Neuroscience : Mn, 2025

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi009-A) from a patient with amyotrophic lateral sclerosis due to SOD1 mutation.

Li B et al.

Stem Cell Research, 2025

Molecular characterization of NOS3 and SOD1 genes as markers for detecting patients with breast cancer.

Mohsin MD et al.

Molecular Biology Reports, 2025

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 › Huang2024_ClinicalPhenotypes

Polygenic markers of survival and longevity in the antioxidant genes PON1, PON2, MTHFR, MSRA, SOD1, NQO1, and CAT in a 20-year follow-up study in the population from the Volga-Ural region.

Erdman V et al.

Gene, 2024

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

Huang M et al.

Translational Neurodegeneration, 2024

Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study.

Datkhile KD et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Association of SOD2 rs2758339, rs5746136 and rs2842980 polymorphisms with increased risk of breast cancer: a haplotype-based case-control study.

Asadi S et al.

Genes & Genomics, 2023

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

Martinelli I et al.

Neural Regeneration Research, 2023

36571338 (PubMed )
Supplement: NRR-18-1427_Suppl2.pdf

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

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Catalase C262T genetic variation and cancer susceptibility: A comprehensive meta-analysis with meta-regression and trial sequential analysis.

Barek MA et al.

The International Journal of Biological Markers, 2022

The Activity of Superoxide Dismutase, Its Relationship with the Concentration of Zinc and Copper and the Prevalence of rs2070424 Superoxide Dismutase Gene in Women with Polycystic Ovary Syndrome-Preliminary Study.

Bizoń A et al.

Journal of Clinical Medicine, 2022

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Ruffo P et al.

Genes, 2022

Susceptibility to preeclampsia is associated with a 50-bp insertion/deletion polymorphism at the promoter region of the SOD1 gene

Namdari S et al.

Journal of the Turkish German Gynecological Association, 2021

Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.

Muratet F et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

Association study between superoxide Dismutases gene polymorphisms and development of diabetic retinopathy and cataract in Iranian patients with type two diabetes mellitus.

Saremi L et al.

Journal of Diabetes and Metabolic Disorders, 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

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

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China.

Chen LX et al.

Frontiers in Genetics, 2021

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma.

Salimi S et al.

Iubmb Life, 2020

Genetic polymorphisms of superoxide dismutase 1 are associated with the serum lipid profiles of Han Chinese adults in a sexually dimorphic manner.

Xu P et al.

Plos One, 2020

Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis.

Liu ZJ et al.

Aging and Disease, 2019

Genetic polymorphisms of antioxidant enzymes CAT and SOD affect the outcome of clinical, biochemical, and anthropometric variables in people with obesity under a dietary intervention.

Hernández-Guerrero C et al.

Genes & Nutrition, 2018

Analysis of antioxidative factors related to AMD risk development in the polish patients.

Mrowicka M et al.

Acta Ophthalmologica, 2017

Genetic polymorphisms of superoxide dismutase-1 A251G and catalase C-262T with the risk of colorectal cancer.

Jamhiri I et al.

Molecular Biology Research Communications, 2017

Susceptibility to Ulcerative Colitis and Genetic Polymorphisms of A251G SOD1 and C-262T CAT.

El-Kheshen G et al.

Journal of Medical Biochemistry, 2016

Genetic Polymorphisms in SOD (rs2070424, rs7880) and CAT (rs7943316, rs1001179) Enzymes Are Associated with Increased Body Fat Percentage and Visceral Fat in an Obese Population from Central Mexico.

Hernández-Guerrero C et al.

Archives of Medical Research, 2016

Oxidative stress-related genes in type 2 diabetes: association analysis and their clinical impact.

Haldar SR et al.

Biochemical Genetics, 2015

Superoxide Dismutase Gene (SOD1, SOD2, and SOD3) Polymorphisms and Antituberculosis Drug-induced Hepatitis.

Kim SH et al.

Allergy, Asthma & Immunology Research, 2015

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1

Association of CAT C-262T and SOD1 A251G single nucleotide polymorphisms susceptible to gastric cancer.

Ebrahimpour S et al.

Molecular Biology Research Communications, 2014

Prevalence of catalase (-21 A/T) gene variant in south Indian (Tamil) population.

Lourdhu Mary A et al.

Biomed Research International, 2014

Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract.

Zhang Y et al.

Molecular Vision, 2011

The role of Cat -262C/T, GPX1 Pro198Leu and Sod1+35A/C gene polymorphisms in a development of primary open-angle glaucoma in a Polish population.

Malinowska K et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 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."