KDM6A (Lysine-specific demethylase 6A) variants and mutations

KDM6A (also known as Lysine-specific demethylase 6A) is a human protein-coding gene encoding a lysine-specific demethylase 6A protein. It removes repressive H3K27 methylation and also contributes to chromatin regulation through demethylase-independent interactions. Germline loss-of-function variants cause Kabuki syndrome type 2, while somatic alterations occur in multiple cancers. This analysis covers 4,172 KDM6A variants and mutations. Of these, 18% have computational variant effect predictions. Disease context includes Kabuki syndrome 2, Kabuki syndrome, and urinary bladder cancer. Example KDM6A variants include K2K, S3F, and S3Y.

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 KDM6A variants

Examples include K2K, S3F, S3Y, S3S, C4W, C4S, C4C, G5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.