ZAR1

Chr 4

zygote arrest 1

Also known as: Z3CXXC6

NCBI Gene: 326340ENSG00000182223UniProt: Q86SH2OMIM: 607520

This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
31
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.87
OE 0.72 (0.42–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.88Z-score
OE missense 0.78 (0.67–0.92)
103 obs / 131.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.42–1.30)
0≤0.351.4
Missense OE?0.78 (0.67–0.92)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 8 / 11.1Missense obs/exp: 103 / 131.3Syn Z: -0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZAR1 · 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