Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R240S
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TREX1

NM_033629.6:p.R240S

Associated Papers

Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.

Rioux B et al.

Nature Communications, 2026

41593088 (PubMed )
Supplement: 41467_2025_67832_MOESM1_ESM.pdf

Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.

Shekfeh M et al.

Human Genomics, 2025

The SLE-associated TREX1-P212fs mutation disrupts ER association leading to type I interferonopathy.

Xu S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.

Barizzone N et al.

Biomed Research International, 2013

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.

Namjou B et al.

Genes and Immunity, 2011

TREX1 gene variant in neuropsychiatric systemic lupus erythematosus.

de Vries B et al.

Annals of the Rheumatic Diseases, 2010

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Crow YJ et al.

Human Molecular Genetics, 2009

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Kavanagh D et al.

Cell Cycle (georgetown, Tex.), 2008

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Lee-Kirsch MA et al.

Nature Genetics, 2007

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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."