Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D130N
Back to variants list

TREX1

NM_033629.6:p.D130N

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

Acute liver failure as the first symptom of childhood systemic lupus erythematosus: a case report and review of the literature.

Song Y et al.

Medical Molecular Morphology, 2025

Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.

Qiao Y et al.

Genes & Diseases, 2025

40212794 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Systemic lupus erythematosus overlapping dermatomyositis owing to a heterozygous TREX1 Asp130Asn missense mutation.

Endo Y et al.

Clinical Immunology (orlando, Fla.), 2021

Typing TREX1 gene in patients with systemic lupus erythematosus.

Fredi M et al.

Reumatismo, 2015

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."