TOR1AIP1

Chr 1AR

torsin 1A interacting protein 1

Also known as: LAP1, LAP1B, LAP1C, LGMD2Y

This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

GeneReviewsOMIMResearchGenerating clinical summary…
ARLOEUF 0.911 OMIM phenotype
Clinical SummaryTOR1AIP1
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Gene-Disease Validity (ClinGen)
TOR1AIP1-related multisystem disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
31 unique Pathogenic / Likely Pathogenic· 270 VUS of 547 total submissions
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GeneReview available — TOR1AIP1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.91LOEUF
pLI 0.000
Z-score 1.96
OE 0.62 (0.430.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.88Z-score
OE missense 1.14 (1.051.25)
349 obs / 305.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.430.91)
00.351.4
Missense OE?1.14 (1.051.25)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 19 / 30.7Missense obs/exp: 349 / 305.6Syn Z: -1.28

ClinVar Variant Classifications

547 submitted variants in ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic16
VUS270
Likely Benign194
Benign33
Conflicting11
15
Pathogenic
16
Likely Pathogenic
270
VUS
194
Likely Benign
33
Benign
11
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
0
1
0
15
Likely Pathogenic
15
1
0
0
16
VUS
8
254
8
0
270
Likely Benign
1
3
64
126
194
Benign
0
4
25
4
33
Conflicting
11
Total3826298130539

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

30 pathogenic / likely-pathogenic (of 33) ClinVar copy-number / structural variants overlap TOR1AIP1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TOR1AIP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →