POLH (DNA polymerase eta) variants and mutations

POLH (also known as DNA polymerase eta) is a human protein-coding gene encoding a DNA polymerase eta protein. DNA polymerase eta bypasses UV-induced DNA lesions during translesion synthesis. Deficiency causes the variant form of xeroderma pigmentosum. This analysis covers 937 POLH variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes xeroderma pigmentosum variant type, Jaberi-Elahi syndrome, and xeroderma pigmentosum. Example POLH variants include A2T, A2A, and T3A.

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.

Diseases linked to POLH

Notable POLH variants

Examples include A2T, A2A, T3A, T3P, T3I, T3T, G4E, G4G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.