CHD2 (O14647) variants and mutations

CHD2 (also known as O14647) is a human protein-coding gene encoding an ATP-dependent chromatin remodeler protein. It remodels chromatin to regulate transcription and is particularly important for neuronal development and activity-dependent gene expression. Haploinsufficiency commonly causes developmental and epileptic encephalopathy, often with photosensitive seizures and intellectual disability. This analysis covers 2,008 CHD2 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy 94, B-cell chronic lymphocytic leukemia, and complex neurodevelopmental disorder. Example CHD2 variants include M1T, M2I, and M2V.

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, ClinGen, MaveDB, LitVar.

Notable CHD2 variants

Examples include M1T, M2I, M2V, M2L, M2T, M2R, R3G, R3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.