THRB (Thyroid hormone receptor beta) variants and mutations

THRB (also known as Thyroid hormone receptor beta) is a human protein-coding gene encoding a thyroid hormone receptor beta protein. A nuclear receptor that binds thyroid hormones and regulates hormone-responsive genes. Pathogenic variants can cause resistance to thyroid hormone beta. This analysis covers 756 THRB variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes selective pituitary resistance to thyroid hormone, generalized resistance to thyroid hormone, and thyroid hormone resistance, generalized, autosomal dominant. Example THRB variants include T2I, T2P, and P3L.

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, MaveDB, LitVar.

Diseases linked to THRB

Notable THRB variants

Examples include T2I, T2P, P3L, N4D, N4K, N4S, S5G, S5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.