Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D18H
Back to variants list

TREX1

NM_033629.6:p.D18H

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

Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.

Yi C et al.

Pediatric Rheumatology Online Journal, 2020

Measuring TREX1 and TREX2 exonuclease activities.

Hemphill WO et al.

Methods in Enzymology, 2019

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.

Fye JM et al.

The Journal of Biological Chemistry, 2014

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

Abe J et al.

Rheumatology (oxford, England), 2014

Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease.

Pernet C et al.

The British Journal of Dermatology, 2012

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

Tüngler V et al.

The British Journal of Dermatology, 2012

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."