Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.L162P
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TREX1

NM_033629.6:p.L162P

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

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

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

25604658 (PubMed )
Supplement: supplement_1.docx

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

Crow YJ et al.

Human Molecular Genetics, 2009

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