Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R164*
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TREX1

NM_033629.6:p.R164*

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

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

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Hofer MJ et al.

Immunological Reviews, 2024

Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

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

Namjou B et al.

Genes and Immunity, 2011

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

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Richards A et al.

Nature Genetics, 2007

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Crow YJ et al.

Nature Genetics, 2006

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