RAC1 (P63000) variants and mutations

RAC1 (also known as P63000) is a human protein-coding gene encoding a ras-related C3 botulinum toxin substrate 1 protein. It acts as a molecular switch controlling actin remodeling, cell migration, membrane trafficking, reactive-oxygen production, and developmental signaling. De novo activating or loss-of-function variants can cause neurodevelopmental syndromes with abnormal brain growth and craniofacial features. This analysis covers 508 RAC1 variants and mutations. Of these, 63% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 48, melanoma, and cutaneous melanoma. Example RAC1 variants include Q2*, Q2E, and Q2K.

Variant analysis overview

Gene: RAC1
Protein: P63000
UniProt accession: P63000
Organism: Homo sapiens
Variants analyzed: 508
Variant scope: all variants
Completed: 2026-08-21

Variant and mutation evidence

Variant composition: 400 unspecified-consequence records; 49 missense variants; 41 synonymous variants; 7 frameshift variants; 4 stop-gained variants; 1 in-frame insertions; 1 in-frame deletions; 4 splice-region variants; 1 substitution
Prediction scores: 318 variants have prediction scores (63% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: intellectual disability, autosomal dominant 48, melanoma, cutaneous melanoma, cutaneous leishmaniasis, head and neck squamous cell carcinoma, Abnormality of the skeletal system, Global developmental delay, hereditary disease, cancer, neurodegenerative disease, neurodevelopmental disorder, Intellectual disability.

Protein structure and variant hotspots

Protein features: 22 binding sites; 8 post-translational modification sites.
PTM context: 14 variants overlap post-translational modification sites.

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 RAC1 variants

Examples include Q2*, Q2E, Q2K, Q2L, Q2R, Q2P, Q2H, Q2Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

RAC1 analysis run — RAC1 (508 variants) — completed 2026-08-21