Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.D12A
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SOD1

NM_000454.5:p.D12A

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

Relationship Between the Single Nucleotide Polymorphism A35C in the Cu/Zn-Superoxide Dismutase-1 Gene and Glycemic Control in Individuals with Type 2 Diabetes Mellitus.

de Carvalho GB et al.

Biological Trace Element Research, 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 › abundance_map_scores_LLRps

Genetic variations in the antioxidant genes and their role in modulating susceptibility towards chronic obstructive pulmonary disease in the North Indian population.

Kansal H et al.

Free Radical Biology & Medicine, 2024

Investigation of the Effects of SOD1 +35A/C and GPx-3 +1494A/G Gene Polymorphisms in Patients With Acne Vulgaris.

Yukcu F et al.

Journal of Clinical Practice and Research, 2024

Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus.

Sedaghat MR et al.

Experimental Eye Research, 2024

The Predisposition for Type 2 Diabetes Mellitus and Metabolic Syndrome.

Zenoaga-Barbăroșie C et al.

Balkan Journal of Medical Genetics : Bjmg, 2023

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

Ruffo P et al.

Genes, 2022

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

The rs2234694 and 50 bp Insertion/Deletion polymorphisms of the SOD1 gene are associated with breast cancer risk in a Mexican population.

Gallegos-Arreola MP et al.

European Review for Medical and Pharmacological Sciences, 2020

Five variants of the superoxide dismutase genes in Turkish women with polycystic ovary syndrome.

Polat S et al.

Free Radical Research, 2020

50 bp deletion in promoter superoxide dismutase 1 gene and increasing risk of cardiovascular disease in Mashhad stroke and heart atherosclerotic disorder cohort study.

Darroudi S et al.

Biofactors (oxford, England), 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

Genetics of diabetic neuropathy: Systematic review, meta-analysis and trial sequential analysis.

Zhao Y et al.

Annals of Clinical and Translational Neurology, 2019

31557408 (PubMed )
Supplement: ACN3-6-1996-s004.docx

The Cu/Zn superoxide dismutase +35A/C (rs2234694) variant correlates with altered levels of protein carbonyls and glutathione and associates with severity of COPD in a Tunisian population.

Ben Anes A et al.

Free Radical Research, 2019

Association of pre-eclampsia with SOD2 Ala16Val polymorphism among mother-father-infant triads.

Luo ZC et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2018

Association between SOD1, CAT, GSHPX1 polymorphisms and the risk of inflammatory bowel disease in the Polish population.

Mrowicka M et al.

Oncotarget, 2017

Superoxide Dismutase 1 and 2 Gene Polymorphism in Turkish Vitiligo Patients.

A T et al.

Balkan Journal of Medical Genetics : Bjmg, 2017

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

Mrowicka M et al.

Acta Ophthalmologica, 2017

Pro198Leu Polymorphism in the Glutathione Peroxidase 1 Gene Contributes to Diabetic Peripheral Neuropathy in Type 2 Diabetes Patients.

Buraczynska M et al.

Neuromolecular Medicine, 2017

Oxidative stress gene polymorphisms may have an impact in the development of ischemic stroke.

Karahalil B et al.

The Journal of Gene Medicine, 2017

Evaluation of Effect CAT -262C/T, SOD + 35A/C, GPx1 Pro197Leu Polymorphisms in Patients with IBD in the Polish Population.

Mrowicki J et al.

Polski Przeglad Chirurgiczny, 2016

Genetic polymorphisms (Pro197Leu of Gpx1, +35A/C of SOD1, -262C/T of CAT), the level of antioxidant proteins (GPx1, SOD1, CAT) and the risk of distal symmetric polyneuropathy in Polish patients with type 2 diabetes mellitus.

Kasznicki J et al.

Advances in Medical Sciences, 2016

SOD1 Gene +35A/C (exon3/intron3) Polymorphism in Type 2 Diabetes Mellitus among South Indian Population.

Nithya K et al.

Genetics Research International, 2016

Superoxide Dismutase and Catalase Genotypes in Pediatric Migraine Patients.

Saygi S et al.

Journal of Child Neurology, 2015

Association of Superoxide dismutases (SOD1 and SOD2) and Glutathione peroxidase 1 (GPx1) gene polymorphisms with type 2 diabetes mellitus.

Vats P et al.

Free Radical 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 polymorphic markers of the catalase and superoxide dismutase genes with type 2 diabetes mellitus.

Ghattas MH et al.

Dna and Cell Biology, 2012

Antioxidant enzymes GSR, SOD1, SOD2, and CAT gene variants and bone mineral density values in postmenopausal women: a genetic association analysis.

Mlakar SJ et al.

Menopause (new York, N.y.), 2012

Association of +35A/C (intron3/exon3) polymorphism in SOD1-gene with diabetic nephropathy in type 1 diabetes.

Panduru NM et al.

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2010

Structure of human lanthionine synthetase C-like protein 1 and its interaction with Eps8 and glutathione.

Zhang W et al.

Genes & Development, 2009

Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus.

Flekac M et al.

Bmc Medical Genetics, 2008

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function.

Young RP et al.

Thorax, 2006

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

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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."