LRIG3

Chr 12

leucine rich repeats and immunoglobulin like domains 3

NCBI Gene: 121227ENSG00000139263UniProt: Q6UXM1

Predicted to act upstream of or within otolith morphogenesis. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.63
OE 0.46 (0.33–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.16Z-score
OE missense 0.87 (0.81–0.93)
529 obs / 609.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.33–0.64)
0≤0.351.4
Missense OE?0.87 (0.81–0.93)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 24 / 52.4Missense obs/exp: 529 / 609.6Syn Z: -0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRIG3 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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