RNASEH2B
Chr 13ARribonuclease H2 subunit B
Also known as: AGS2, DLEU8
The protein is the non-catalytic B subunit of RNase H2, an endonuclease that degrades RNA from RNA:DNA hybrids and removes ribonucleotides during DNA replication. Mutations cause Aicardi-Goutières syndrome type 2, an early-onset autosomal recessive neuroinflammatory disorder that typically presents in infancy with features resembling congenital infection. The gene is highly intolerant to loss-of-function variants, reflecting its essential role in DNA metabolism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNASEH2B · 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 →External Resources
Links to major genomics databases and tools