Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.Y117S
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DNASE1

NM_005223.4:p.Y117S

Associated Papers

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

Garcia G et al.

Journal of Translational Medicine, 2024

38454482 (PubMed )
Supplement: 12967_2024_5044_MOESM1_ESM.pdf

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

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093

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

27116004 (PubMed )
Supplement: supplement_1.zip › 20150617Supplementary_Table_1.xlsx › Table1

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

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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."