RADIL
Chr 7Rap associating with DIL domain
Also known as: RASIP2
RADIL encodes a downstream effector of Rap GTPases that is required for cell adhesion and migration of neural crest precursors during development. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and craniofacial abnormalities. The gene shows tolerance to loss-of-function variants (LOEUF 1.21), consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RADIL · 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