Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1L3
Variant:p.R206C
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DNASE1L3

NM_004944.4:p.R206C

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

Liquid biopsy epigenetics: establishing a molecular profile based on cell-free DNA.

Maansson CT et al.

Molecular Oncology, 2025

Genotype imputation from low-coverage data for medical and population genetic analyses.

Biagini SA et al.

Genome Research, 2025

Insights into the genetic landscape of systemic sclerosis.

El-Halwagi A et al.

Best Practice & Research. Clinical Rheumatology, 2024

GWAS shows the genetics behind cell-free DNA and highlights the importance of p.Arg206Cys in DNASE1L3 for non-invasive testing.

Linthorst J et al.

Cell Reports, 2024

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.

Stabach PR et al.

Jci Insight, 2024

The deficiency of DNASE1L3 does not affect systemic sclerosis pathogenesis in two inducible murine models of the disease.

Garreau A et al.

European Journal of Immunology, 2024

Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease.

Garcia G et al.

Journal of Translational Medicine, 2024

Comment on: Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.

Zervou MI et al.

Rheumatology (oxford, England), 2023

Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.

Skaug B et al.

Rheumatology (oxford, England), 2023

Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach.

Yudhani RD et al.

Genomics & Informatics, 2023

Structural features of Dnase1L3 responsible for serum antigen clearance.

McCord JJ et al.

Communications Biology, 2022

Contribution of Impaired DNASE1L3 Activity to Anti-DNA Autoantibody Production in Systemic Lupus Erythematosus.

Mathapathi S et al.

Rheumatology and Immunology Research, 2022

Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.

Coke LN et al.

Annals of the Rheumatic Diseases, 2021

Association of the DNASE1L3 rs35677470 polymorphism with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis: Structural biological insights.

Zervou MI et al.

Molecular Medicine Reports, 2020

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.

López-Isac E et al.

Nature Communications, 2019

Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity.

Ueki M et al.

Plos One, 2019

Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.

Westra HJ et al.

Nature Genetics, 2018

Dnase1L3 Regulates Inflammasome-Dependent Cytokine Secretion.

Shi G et al.

Frontiers in Immunology, 2017

Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity.

Fujihara J et al.

Immunological Investigations, 2016

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity.

Sisirak V et al.

Cell, 2016

An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.

Zochling J et al.

Arthritis Research & Therapy, 2014

Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.

Mayes MD et al.

American Journal of Human Genetics, 2014

Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.

Ueki M et al.

The Febs Journal, 2014

An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Preeprem T et al.

Biodata Mining, 2013

24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_7

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

Al-Mayouf SM et al.

Nature Genetics, 2011

Global genetic analysis of all single nucleotide polymorphisms in exons of the human deoxyribonuclease I-like 3 gene and their effect on its catalytic activity.

Ueki M et al.

Electrophoresis, 2011

Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme.

Ueki M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009

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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."