ZNF438

Chr 10

zinc finger protein 438

Also known as: bA330O11.1

NCBI Gene: 220929ENSG00000183621UniProt: Q7Z4V0

Enables DNA-binding transcription factor activity. Involved in negative regulation of DNA-templated transcription. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
4
Pubs (1 yr)
10
P/LP submissions
0%
P/LP missense
1.11
LOEUF
—
Mechanism
Clinical Summary— ZNF438
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 unique Pathogenic / Likely Pathogenic· 116 VUS of 152 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.11LOEUF
pLI 0.000
Z-score 1.24
OE 0.67 (0.42–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.29Z-score
OE missense 1.04 (0.96–1.12)
446 obs / 429.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.67 (0.42–1.11)
0≤0.351.4
Missense OE1.04 (0.96–1.12)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 11 / 16.4Missense obs/exp: 446 / 429.3Syn Z: -1.30

ClinVar Variant Classifications

152 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS116
Likely Benign15
Benign1
9
Pathogenic
1
Likely Pathogenic
116
VUS
15
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
1
0
1
VUS
0
114
2
0
116
Likely Benign
0
13
0
2
15
Benign
0
0
1
0
1
Total0127132142

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZNF438 · 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.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Comprehensive Analysis of a Zinc Finger Protein Gene-Based Signature with Regard to Prognosis and Tumor Immune Microenvironment in Osteosarcoma
Sun X et al.·Front Genet
2022
A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.
Okamoto N et al.·Am J Med Genet A
2026
[Spatial Organization of Chromatin of ZEB1 Gene Promoter Region in Pancreatic Ductal Adenocarcinoma Cells].
Zinovyeva MV et al.·Mol Biol (Mosk)
2025
DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites
Krolevets M et al.·Clin Epigenetics
2023Review
Deep belief network-based approach for detecting Alzheimer's disease using the multi-omics data
Mahendran N et al.·Comput Struct Biotechnol J
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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