PAX8 (Paired box protein Pax-8) variants and mutations

PAX8 (also known as Paired box protein Pax-8) is a human protein-coding gene encoding a paired box protein Pax-8 protein. It controls developmental and adult gene programs in the thyroid, kidney, and Mullerian-derived tissues. Heterozygous pathogenic variants can cause congenital hypothyroidism through thyroid dysgenesis or impaired thyroid-specific transcription. This analysis covers 876 PAX8 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes hypothyroidism, congenital, nongoitrous, 2, congenital hypothyroidism, and hypothyroidism. Example PAX8 variants include P2L, H3D, and H3Y.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable PAX8 variants

Examples include P2L, H3D, H3Y, N4S, S5Y, R7K, R7S, R7T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.