ATRIP
Chr 3ATR interacting protein
The ATRIP protein is essential for DNA damage checkpoint signaling and is required for ATR protein expression and stabilization. Mutations cause Seckel syndrome, characterized by severe microcephaly, intrauterine and postnatal growth restriction, and distinctive facial features, with an autosomal recessive inheritance pattern. This gene is highly constrained against loss-of-function variants, reflecting its critical cellular role.
Limited evidence — not for standalone diagnostic reporting
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
ATRIP · 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