Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P212fs
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TREX1

NM_033629.6:p.P212fs

Associated Papers

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

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 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

Suppression of TREX1 deficiency-induced cellular senescence and interferonopathies by inhibition of DNA damage response.

Du H et al.

Iscience, 2023

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

Wolf C et al.

Nature Communications, 2016

27230542 (PubMed )
Supplement: ncomms11752-s1.pdf

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

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

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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."