Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.H195Q
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TREX1

NM_033629.6:p.H195Q

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

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

A Novel Type I Interferon Primed Dendritic Cell Subpopulation in TREX1 Mutant Chilblain Lupus Patients.

Eugster A et al.

Frontiers in Immunology, 2022

Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation.

Zimmermann N et al.

Jama Dermatology, 2019

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

Paradis C et al.

Journal of Clinical Immunology, 2019

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

Günther C et al.

Jama Dermatology, 2015

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

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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."