TREX1
Chr 3ADARthree prime repair exonuclease 1
Also known as: AGS1, CRV, DRN3, HERNS, RVCLS
TREX1 encodes a 3'-to-5' DNA exonuclease that degrades cytosolic DNA fragments to prevent inappropriate activation of innate immune signaling pathways. Mutations cause Aicardi-Goutières syndrome (typically early-onset encephalopathy with calcifications and chronic CSF lymphocytosis), chilblain lupus, retinal vasculopathy with cerebral leukoencephalopathy, and systemic lupus erythematosus susceptibility. The gene shows both autosomal dominant and autosomal recessive inheritance patterns.
Definitive — sufficient evidence for diagnostic panels
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TREX1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Taiwan Associated Genetic and Nongenetic Small Vessel Disease
RECRUITING" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus
RECRUITINGExternal Resources
Links to major genomics databases and tools