SLC25A14 (O95258) variants and mutations

SLC25A14 (also known as O95258) is a human protein-coding gene encoding a brain mitochondrial carrier protein 1 protein. A mitochondrial carrier that transports several inorganic anions and dicarboxylates and can exchange protons across the inner membrane. Its transport and uncoupling activities help regulate mitochondrial redox balance, membrane potential, and ATP production. This analysis covers 453 SLC25A14 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes ovarian cancer, Alzheimer disease, and neoplasm. Example SLC25A14 variants include M1?, G2S, and I3V.

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, PharmGKB, MaveDB, LitVar.

Notable SLC25A14 variants

Examples include M1?, G2S, I3V, I3S, I3I, F4L, P5P, G6R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.