Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D272fs
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TREX1

NM_033629.6:p.D272fs

Associated Papers

TREX1 exonuclease in immunity and disease.

Shang Z et al.

International Immunology, 2025

Mouse models of type I interferonopathies.

Luca D et al.

Human Molecular Genetics, 2025

The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.

Markus HS et al.

Physiological Reviews, 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

The induction of type I interferonopathy in Trex1-P212fs mice is mediated by activation of the cGAS-STING pathway.

Du H et al.

International Journal of Biological Macromolecules, 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

Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.

Chauvin SD et al.

Nature Communications, 2024

Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.

MacLauchlan S et al.

Arthritis & Rheumatology (hoboken, N.j.), 2022

ER-directed TREX1 limits cGAS activation at micronuclei.

Mohr L et al.

Molecular Cell, 2021

cGAS-STING Pathway Does Not Promote Autoimmunity in Murine Models of SLE.

Motwani M et al.

Frontiers in Immunology, 2021

DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.

Sakai T et al.

Journal of Autoimmunity, 2017

Mitotic Phosphorylation of TREX1 C Terminus Disrupts TREX1 Regulation of the Oligosaccharyltransferase Complex.

Kucej M et al.

Cell Reports, 2017

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA.

Wolf C et al.

Nature Communications, 2016

Cytosolic Nuclease TREX1 Regulates Oligosaccharyltransferase Activity Independent of Nuclease Activity to Suppress Immune Activation.

Hasan M et al.

Immunity, 2015

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

Barizzone N et al.

Biomed Research International, 2013

TREX1 gene variant in neuropsychiatric systemic lupus erythematosus.

de Vries B et al.

Annals of the Rheumatic Diseases, 2010

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

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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."