WRAP53
Chr 17ARWD repeat containing antisense to TP53
Also known as: DKCB3, TCAB1, WDR79
This RNA chaperone is an essential component of the telomerase holoenzyme complex required for telomere synthesis and also plays key roles in Cajal body formation and DNA repair. Mutations cause dyskeratosis congenita, autosomal recessive type 3, a disorder affecting multiple organ systems including the skin, nails, oral mucosa, bone marrow, and lungs. The gene shows high constraint against loss-of-function variants (pLI near 0, LOEUF 0.69) and follows autosomal recessive inheritance.
Moderate evidence — consider for supplementary testing
3 total gene-disease associations curated
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
WRAP53 · 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