CHEK1 (O14757) variants and mutations

CHEK1 (also known as O14757) is a human protein-coding gene encoding a serine/threonine-protein kinase Chk1 protein. It enforces the replication-stress and DNA-damage checkpoints, stabilizing stalled replication forks and delaying cell-cycle progression until DNA can be repaired. Many cancers become dependent on CHK1 signaling under high replication stress, making it an anticancer target. This analysis covers 854 CHEK1 variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes neurodegenerative disease, oocyte/zygote/embryo maturation arrest 21, and Male infertility due to gonadal dysgenesis or sperm disorder. Example CHEK1 variants include M1?, A2G, and A2T.

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 CHEK1 variants

Examples include M1?, A2G, A2T, A2V, A2S, A2A, V3M, V3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.