RAD18
Chr 3RAD18 E3 ubiquitin protein ligase
Also known as: RNF73
RAD18 encodes an E3 ubiquitin-protein ligase that mono-ubiquitinates PCNA during postreplication repair of UV-damaged DNA, functioning through interaction with the E2 ubiquitin conjugating enzyme UBE2B. Mutations cause a DNA repair disorder characterized by extreme UV sensitivity, growth retardation, and developmental delays, inherited in an autosomal recessive pattern. The gene shows no constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RAD18 · 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