ZSCAN31

Chr 6

zinc finger and SCAN domain containing 31

Also known as: ZNF20-Lp, ZNF310P, ZNF323

NCBI Gene: 64288ENSG00000235109UniProt: Q96LW9

This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
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?
1.15LOEUF
pLI 0.000
Z-score 1.07
OE 0.74 (0.48–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.08Z-score
OE missense 0.98 (0.88–1.10)
209 obs / 212.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.48–1.15)
0≤0.351.4
Missense OE?0.98 (0.88–1.10)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 14 / 19.0Missense obs/exp: 209 / 212.5Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZSCAN31 · 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