LRRN1

Chr 3

leucine rich repeat neuronal 1

Also known as: FIGLER3, NLRR-1, NLRR1

NCBI Gene: 57633ENSG00000175928UniProt: O75427OMIM: 619623

The LRRN1 protein regulates signaling by multiple toll-like receptors and acts as a broad-spanning regulator of the innate immune response, while also being predicted to regulate synapse assembly. This gene is highly constrained against loss-of-function mutations (pLI 0.97, LOEUF 0.32), but specific disease associations and inheritance patterns have not been established in the provided data. Additional clinical and genetic studies are needed to define the phenotypic spectrum associated with LRRN1 variants.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.32
Clinical Summary— LRRN1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
10 unique Pathogenic / Likely Pathogenic· 81 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.970
Z-score 3.69
OE 0.10 (0.04–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.35Z-score
OE missense 0.95 (0.87–1.04)
368 obs / 387.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.04–0.32)
0≤0.351.4
Missense OE0.95 (0.87–1.04)
0≤0.61.4
Synonymous OE1.18
0≤1.21.6
LoF obs/exp: 2 / 19.7Missense obs/exp: 368 / 387.3Syn Z: -1.78

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
VUS81
Likely Benign6
10
Pathogenic
81
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
0
0
0
VUS
0
78
3
0
81
Likely Benign
0
4
0
2
6
Benign
0
0
0
0
0
Total08213297

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

View in ClinVar →

Protein Context — Lollipop Plot

LRRN1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients