Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.R284fs
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TREX1

NM_033629.6:p.R284fs

Associated Papers

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

A 44-year-old man with eye, kidney, and brain dysfunction.

Vodopivec I et al.

Annals of Neurology, 2016

Human disease phenotypes associated with mutations in TREX1.

Rice GI et al.

Journal of Clinical Immunology, 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."