Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.E198K
Back to variants list

TREX1

NM_033629.6:p.E198K

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

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

Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.

Tasharrofi B et al.

Iranian Journal of Child Neurology, 2024

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

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

Structural basis of human TREX1 DNA degradation and autoimmune disease.

Zhou W et al.

Nature Communications, 2022

cGAS phase separation inhibits TREX1-mediated DNA degradation and enhances cytosolic DNA sensing.

Zhou W et al.

Molecular Cell, 2021

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

The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.

Fye JM et al.

The Journal of Biological Chemistry, 2014

The TREX1 C-terminal region controls cellular localization through ubiquitination.

Orebaugh CD et al.

The Journal of Biological Chemistry, 2013

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

Barizzone N et al.

Biomed Research International, 2013

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."