RWDD2A
Chr 6RWD domain containing 2A
Also known as: RWDD2, dJ747H23.2
The RWDD2A protein functions as a component of the CRL4-DDB1 ubiquitin ligase complex involved in protein degradation and DNA damage response. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability, seizures, and progressive microcephaly. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.
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
RWDD2A · 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