LRIT1

Chr 10

leucine rich repeat, Ig-like and transmembrane domains 1

Also known as: FIGLER9, LRRC21, PAL

NCBI Gene: 26103ENSG00000148602UniProt: Q9P2V4

Predicted to act upstream of or within phototransduction; synaptic signaling; and visual perception. Predicted to be located in dendrite. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
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?
1.57LOEUF
pLI 0.000
Z-score -0.37
OE 1.09 (0.77–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.58Z-score
OE missense 1.09 (1.00–1.18)
398 obs / 366.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.09 (0.77–1.57)
0≤0.351.4
Missense OE?1.09 (1.00–1.18)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 21 / 19.3Missense obs/exp: 398 / 366.8Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRIT1 · 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