Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R128H
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TREX1

NM_033629.6:p.R128H

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

TREX1 exonuclease in immunity and disease.

Shang Z et al.

International Immunology, 2025

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

40581636 (PubMed )
Supplement: 40246_2025_785_MOESM11_ESM.xlsx › Table_S8

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Shim A et al.

Human Molecular Genetics, 2024

Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.

Chauvin SD et al.

Nature Communications, 2024

38824133 (PubMed )
Supplement: 41467_2024_49066_MOESM6_ESM.xlsx › Sheet1

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Shim A et al.

Biorxiv : the Preprint Server for Biology, 2024

PML and PML-like exonucleases restrict retrotransposons in jawed vertebrates.

Mathavarajah S et al.

Nucleic Acids Research, 2023

Structural basis of human TREX1 DNA degradation and autoimmune disease.

Zhou W et al.

Nature Communications, 2022

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype.

Ceccarelli F et al.

Journal of Immunology Research, 2015

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

Barizzone N et al.

Biomed Research International, 2013

Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.

Sugiura K et al.

The Journal of Investigative Dermatology, 2012

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

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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."