memVar: an integrated resource for interpreting human membrane protein variation in molecular and disease contexts

memVar integrates 10,906,688 single-nucleotide variants across 7,732 human membrane-associated proteins, linking each record to membrane topology, lipid contacts, and disease annotations.

• Why it matters: Interpreting membrane protein variation is limited by disconnects between clinical findings and the membrane environments and molecular interfaces that shape function.
• What they did: The database reconciles genomic, transcript, and protein coordinates and adds topology, bilayer depth, lipid contacts, functional sites, partner-specific interaction interfaces, and variant-effect predictions, retaining provenance.
• The result: Pathogenic/likely pathogenic missense substitutions are enriched in transmembrane segments (pooled odds ratio 2.47) and predicted protein-protein interaction sites (6.67), and IntAct shows interaction loss/decrease for 57.9% versus 7.4% of pathogenic versus benign substitutions.

AI summary of the abstract · may contain errors · not medical advice · read the paper.