LIRIL2R
Chr 6lincRNA regulator of IL2RA
38
ClinVar variants
27
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— LIRIL2R
📋
ClinVar Variants
27 Pathogenic / Likely Pathogenic· 3 VUS of 38 total submissions
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
38 submitted variants in ClinVar
Classification Summary
Pathogenic24
Likely Pathogenic3
VUS3
Likely Benign3
Benign5
24
Pathogenic
3
Likely Pathogenic
3
VUS
3
Likely Benign
5
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 24 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 3 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 5 |
| Total | — | 38 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LIRIL2R · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Long noncoding RNA LIRIL2R modulates FOXP3 levels and suppressive function of human CD4(+) regulatory T cells by regulating IL2RA.
Andrabi SBA et al.·Proc Natl Acad Sci U S A
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
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
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)