EPM2AIP1
Chr 3EPM2A interacting protein 1
EPM2AIP1 encodes a protein that binds to laforin (the EPM2A gene product), though its specific function remains unknown. Mutations cause autosomal recessive progressive myoclonus epilepsy with adolescent onset. The gene is highly constrained against loss-of-function variants, suggesting it plays an important role in neuronal function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
117 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 65 | 10 | 0 | 75 |
Likely Benign | 0 | 3 | 2 | 1 | 6 |
Benign | 0 | 0 | 2 | 2 | 4 |
| Total | 0 | 68 | 46 | 3 | 117 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EPM2AIP1 · 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