NPR1 (P16066) variants and mutations

NPR1 (also known as P16066) is a human protein-coding gene encoding an atrial natriuretic peptide receptor 1 protein. It converts natriuretic-peptide binding into intracellular cyclic GMP production, mediating vasodilation, natriuresis, and antihypertrophic cardiac effects. Loss-of-function variation can raise blood pressure and blunt natriuretic signaling, whereas enhanced pathway activity is cardioprotective. This analysis covers 1,658 NPR1 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes congestive heart failure, hypertensive disorder, and cardiovascular disorder. Example NPR1 variants include P2L, P2T, and P2S.

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 NPR1 variants

Examples include P2L, P2T, P2S, P2Q, P2P, G3W, G3R, G3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.