Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.A223T
Back to variants list

TREX1

NM_033629.6:p.A223T

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

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

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

[Establishment of induced pluripotent stem cell model of Aicardi-Goutières Syndrome mutated in TREX1].

Liu X et al.

Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2023

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.

Puckelwartz MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Case report: Durable response to ruxolitinib in a child with TREX1-related disorder.

Bin Khathlan Y et al.

Frontiers in Pediatrics, 2023

37187582 (PubMed )
Supplement: Table1.pdf

Structural basis of human TREX1 DNA degradation and autoimmune disease.

Zhou W et al.

Nature Communications, 2022

Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.

Gavazzi F et al.

Pediatric Blood & Cancer, 2022

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."