Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.P132A
Back to variants list

TREX1

NM_033629.6:p.P132A

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

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

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

38824133 (PubMed )
Supplement: 41467_2024_49066_MOESM6_ESM.xlsx › Sheet1

Structural basis of human TREX1 DNA degradation and autoimmune disease.

Zhou W et al.

Nature Communications, 2022

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

Paradis C et al.

Journal of Clinical Immunology, 2019

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 2015

[Genetics of lupus erythematosus].

Günther C

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2015

Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.

Sugiura K et al.

The Journal of Investigative 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."