ZNFX1
Chr 20ARzinc finger NFX1-type containing 1
Also known as: IMD91
The protein functions as a double-stranded RNA sensor that recognizes viral RNA and initiates the type I interferon response by interacting with MAVS, and is also required for immunity against bacteria including mycobacteria. Autosomal recessive mutations cause immunodeficiency 91 and hyperinflammation, characterized by increased susceptibility to viral and bacterial infections. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.25), indicating that heterozygous loss-of-function variants are likely not tolerated in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
322 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 4 | 0 | 10 | 0 | 14 |
Likely Pathogenic | 3 | 0 | 2 | 0 | 5 |
VUS | 4 | 237 | 10 | 0 | 251 |
Likely Benign | 0 | 13 | 0 | 12 | 25 |
Benign | 0 | 3 | 4 | 3 | 10 |
Conflicting | — | 2 | |||
| Total | 11 | 253 | 26 | 15 | 307 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNFX1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools