Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.R244Q
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DNASE1

NM_005223.4:p.R244Q

Associated Papers

DNase1 RS1053874 Polymorphism is Associated with Early Neurological Recovery through NET Modulation and with Long-Term Survival in Ischemic Stroke: A Prospective Cohort Study.

Díaz-Benito B et al.

Annals of Neurology, 2026

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

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

Garcia G et al.

Journal of Translational Medicine, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Schnappauf O et al.

Pediatric Rheumatology Online Journal, 2021

33892719 (PubMed )
Supplement: 12969_2021_536_MOESM1_ESM.docx

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity.

Ueki M et al.

Scientific Reports, 2019

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.

Demirkaya E et al.

Arthritis & Rheumatology (hoboken, N.j.), 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

Identification of the functional alleles of the nonsynonymous single-nucleotide polymorphisms potentially implicated in systemic lupus erythematosus in the human deoxyribonuclease I gene.

Kimura-Kataoka K et al.

Dna and Cell Biology, 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

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s010.xlsx › all_omim_evidence.csv

DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects.

Belguith-Maalej S et al.

Rheumatology International, 2009

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