POLR1D (P0DPB6) variants and mutations

POLR1D (also known as P0DPB6) is a human protein-coding gene encoding a DNA-directed RNA polymerases I and III subunit RPAC2 protein. Its annotated function is DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short…. It is annotated at the nucleus. This analysis covers 346 POLR1D variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes Treacher Collins syndrome 2, Treacher-Collins syndrome, and hereditary disease. Example POLR1D variants include E2D, E2G, and E2*.

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, ClinGen, MaveDB, LitVar.

Notable POLR1D variants

Examples include E2D, E2G, E2*, E2K, E2E, E3D, E3K, E3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.