Chilblain lupus: genes and variants
Chilblain lupus is linked to 1 analyzed protein (TREX1). 2 DNA variants are known to cause it; 240 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: chilblain lupus 1
Genes linked to Chilblain lupus
TREX1: Three-prime repair exonuclease 1
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.
2 disease-causing and 240 uncertain variants in TREX1 are linked to Chilblain lupus.
Known disease-causing variants in Chilblain lupus
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TREX1 D18N | 18 | Disease-causing (★★) | |
| TREX1 D200N | 200 | Disease-causing (★) |
Diseases related to Chilblain lupus
- Fetal anomalies with a likely genetic cause, also linked to TREX1
- Aicardi-Goutieres syndrome, also linked to TREX1
- Systemic lupus erythematosus, also linked to TREX1
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, also linked to TREX1
Frequently asked questions
Which genes are linked to Chilblain lupus?
In CATVariant, Chilblain lupus is linked to 1 analyzed protein: TREX1 (Three-prime repair exonuclease 1).
How many genetic variants are linked to Chilblain lupus?
268 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 240 are of uncertain significance or have conflicting reports.
Which uncertain variants in Chilblain lupus look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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