PAQR6

Chr 1

progestin and adipoQ receptor family member 6

Also known as: PRdelta

NCBI Gene: 79957ENSG00000160781UniProt: Q6TCH4

Predicted to enable signaling receptor activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.52
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?
1.52LOEUF
pLI 0.000
Z-score 0.48
OE 0.82 (0.47–1.52)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.75Z-score
OE missense 0.85 (0.76–0.97)
180 obs / 210.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.47–1.52)
0≤0.351.4
Missense OE?0.85 (0.76–0.97)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 7 / 8.5Missense obs/exp: 180 / 210.7Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAQR6 · 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