ZNF385D
Chr 3zinc finger protein 385D
Also known as: ZNF659
The ZNF385D protein enables sequence-specific double-stranded DNA binding and is predicted to be active in the nucleus. This gene is highly constrained against loss-of-function variants (LOEUF 0.47), suggesting mutations would likely cause severe disease, but no specific clinical phenotypes or inheritance patterns have been established yet for ZNF385D-related disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
112 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 | 0 | 0 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 68 | 6 | 0 | 74 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 2 | 1 | 3 |
| Total | 0 | 68 | 30 | 1 | 99 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF385D · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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