UNG (Uracil-DNA glycosylase) variants and mutations

UNG (also known as Uracil-DNA glycosylase) is a human protein-coding gene encoding an uracil-DNA glycosylase protein. It removes uracil from DNA and initiates base-excision repair, protecting the genome from cytosine deamination and misincorporated uracil. Biallelic loss-of-function variants can cause hyper-IgM syndrome through defective antibody class-switch recombination. This analysis covers 618 UNG variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes hyper-IgM syndrome type 5, food allergy, and Hereditary breast and ovarian cancer syndrome. Example UNG variants include I2I, G3A, and G3S.

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, MaveDB, LitVar.

Notable UNG variants

Examples include I2I, G3A, G3S, G3C, G3D, G3G, G3V, G3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.