TREX1 (Three-prime repair exonuclease 1) variants and mutations

TREX1 (also known as Three-prime repair exonuclease 1) is a human protein-coding gene encoding a three-prime repair exonuclease 1 protein. It degrades aberrant cytosolic DNA and prevents inappropriate activation of the cGAS-STING interferon pathway. Pathogenic variants cause interferon-mediated diseases including Aicardi-Goutieres syndrome and familial chilblain lupus, and certain alleles cause retinal vasculopathy with cerebral leukoencephalopathy. This analysis covers 901 TREX1 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Aicardi-Goutieres syndrome 1, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestatio, and systemic lupus erythematosus. Example TREX1 variants include M1T, M1V, and G2A.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable TREX1 variants

Examples include M1T, M1V, G2A, G2D, G2S, G2V, G2R, G2G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.