NUDCD1
Chr 8NudC domain containing 1
Also known as: CML66, OVA66
The NUDCD1 protein is predicted to be involved in immune system processes and is located in the cytosol and nucleoplasm. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUDCD1 · 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