Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R114C
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TREX1

NM_033629.6:p.R114C

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

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Liu R et al.

Pediatric Rheumatology Online 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

40581636 (PubMed )
Supplement: 40246_2025_785_MOESM11_ESM.xlsx › Table_S8

Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Zhang S et al.

Pediatric Investigation, 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

A clinical score to guide in decision making for monogenic type I IFNopathies.

Sönmez HE et al.

Pediatric Research, 2020

TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia.

Paradis C et al.

Journal of Clinical Immunology, 2019

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.

Kisla Ekinci RM et al.

European Journal of Medical Genetics, 2017

Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series.

Incecik F et al.

Annals of Indian Academy of Neurology, 0

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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."