SLC2A10 (O95528) variants and mutations

SLC2A10 (also known as O95528) is a human protein-coding gene encoding a solute carrier family 2, facilitated glucose transporter member 10 protein. Its annotated function is facilitative glucose transporter required for the development of the cardiovascular system. It is annotated at the endomembrane system. This analysis covers 979 SLC2A10 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes arterial tortuosity syndrome, familial thoracic aortic aneurysm and aortic dissection, and Familial hemophagocytic lymphohistiocytosis. Example SLC2A10 variants include M1V, G2A, and G2S.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SLC2A10 variants

Examples include M1V, G2A, G2S, G2C, G2G, H3P, H3H, S4P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.