Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.S50_Q51delFs
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TREX1

NM_033629.6:p.S50_Q51delFs

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

Association of IgG4-related disease with human inborn errors of immunity.

Batani V et al.

Rheumatology (oxford, England), 2025

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

McGlasson S et al.

Brain : a Journal of Neurology, 2025

40476824 (PubMed )
Supplement: awaf085_supplementary_data.pdf

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28

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

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J et al.

Journal of Clinical Medicine, 2019

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

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Ramantani G et al.

Arthritis and Rheumatism, 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."