CDC42 (P60953) variants and mutations

CDC42 (also known as P60953) is a human protein-coding gene encoding a cell division control protein 42 homolog protein. It acts as a molecular switch controlling actin organization, cell polarity, migration, vesicle trafficking, and multiple developmental signaling pathways. Germline dysregulating variants can cause Takenouchi-Kosaki syndrome and related neurodevelopmental disorders with hematologic and immune abnormalities. This analysis covers 319 CDC42 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda, hereditary disease, and hemophagocytic syndrome. Example CDC42 variants include Q2K, Q2Q, and T3K.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CDC42 variants

Examples include Q2K, Q2Q, T3K, T3S, T3A, I4M, I4S, I4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.