DNASE1L1
Chr Xdeoxyribonuclease 1 like 1
Also known as: DNAS1L1, DNASEX, DNL1L, G4.8, XIB
The protein is a deoxyribonuclease localized to the endoplasmic reticulum that degrades DNA and is modified by N-linked glycosylation. Mutations cause autosomal recessive systemic lupus erythematosus, an autoimmune condition affecting multiple organ systems including skin, joints, kidneys, and the central nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.69), suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DNASE1L1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools