ZNF883

Chr 9

zinc finger protein 883

This protein is predicted to function as a DNA-binding transcription factor that regulates RNA polymerase II transcription in the nucleus. Mutations in ZNF883 are associated with neurodevelopmental disorders through a dominant-negative mechanism. The inheritance pattern and specific clinical phenotypes have not been fully characterized.

ResearchSummary from RefSeq, UniProt, Mechanism
DNmechanism
Some data sources returned errors (1)

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Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.7228th %ile
GOF
0.6150th %ile
LOF
0.4529th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF883 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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