TSHR (Thyrotropin receptor) variants and mutations

TSHR (also known as Thyrotropin receptor) is a human protein-coding gene encoding a thyrotropin receptor protein. TSH signaling through this pathway drives thyroid-hormone synthesis, iodine handling, and thyroid growth. Activating variants can cause autonomous hyperthyroidism, whereas loss-of-function variants can cause TSH resistance and congenital hypothyroidism. This analysis covers 1,889 TSHR variants and mutations. Of these, 49% have computational variant effect predictions. Disease context includes hypothyroidism due to TSH receptor mutations, familial hyperthyroidism due to mutations in TSH receptor, and hypothyroidism. Example TSHR variants include M1?, R2K, and R2S.

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.

Notable TSHR variants

Examples include M1?, R2K, R2S, R2W, R2G, P3L, P3Q, P3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.