GHR (Growth hormone receptor) variants and mutations

GHR (also known as Growth hormone receptor) is a human protein-coding gene encoding a growth hormone receptor protein. Its activation by growth hormone triggers JAK2-STAT signaling that promotes IGF-1 production, linear growth, and metabolic effects. Biallelic or dominant-negative loss-of-function variants can cause growth-hormone insensitivity, while activating alterations are rare. This analysis covers 1,097 GHR variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes Laron syndrome, short stature due to partial GHR deficiency, and Turner syndrome. Example GHR variants include M1?, M1V, and D2H.

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 GHR variants

Examples include M1?, M1V, D2H, D2V, D2Y, D2G, D2D, L3F. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.