TOR1AIP1
Chr 1ARtorsin 1A interacting protein 1
Also known as: LAP1, LAP1B, LAP1C, LGMD2Y
This gene encodes a protein that maintains nuclear membrane integrity by binding A- and B-type lamins and facilitating the proper localization and ATPase activity of TOR1A and TOR1B proteins at the nuclear membrane. Mutations cause autosomal recessive muscular dystrophy characterized by rigid spine and distal joint contractures. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
500 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 | 12 | 0 | 12 | 0 | 24 |
Likely Pathogenic | 13 | 0 | 0 | 0 | 13 |
VUS | 7 | 226 | 8 | 0 | 241 |
Likely Benign | 0 | 1 | 59 | 123 | 183 |
Benign | 0 | 0 | 24 | 1 | 25 |
Conflicting | — | 6 | |||
| Total | 32 | 227 | 103 | 124 | 492 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TOR1AIP1 · 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