Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.Y305C
Back to variants list

TREX1

NM_033629.6:p.Y305C

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

C-terminal TREX1 c.914A>G variant in a patient with IgA nephropathy and thrombotic microangiopathy: expanding the clinical and genetic spectrum of IgA nephropathy with microangiopathic lesions.

Dirim AB et al.

Clinical Kidney Journal, 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

The DNase TREX1 is a substrate of the intramembrane protease SPP with implications for disease pathogenesis.

Tever OK et al.

Cellular and Molecular Life Sciences : Cmls, 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

Monogenic lupus: Tracing the therapeutic implications from single gene mutations.

Jia X et al.

Clinical Immunology (orlando, Fla.), 2023

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients.

Foddis M et al.

Neurobiology of Aging, 2023

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.

Alexeeva E et al.

Frontiers in Medicine, 2023

ER-directed TREX1 limits cGAS activation at micronuclei.

Mohr L et al.

Molecular Cell, 2021

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

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

Orebaugh CD et al.

The Journal of Biological Chemistry, 2013

Heterozygous TREX1 mutations in early-onset cerebrovascular disease.

Pelzer N et al.

Journal of Neurology, 2013

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

Barizzone N et al.

Biomed Research International, 2013

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

Namjou B et al.

Genes and Immunity, 2011

TREX1 gene variant in neuropsychiatric systemic lupus erythematosus.

de Vries B et al.

Annals of the Rheumatic Diseases, 2010

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

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Lee-Kirsch MA et al.

Nature Genetics, 2007

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."