TBX3 (T-box transcription factor TBX3) variants and mutations

TBX3 (also known as T-box transcription factor TBX3) is a human protein-coding gene encoding a t-box transcription factor protein. It represses and activates developmental gene programs involved in limb, mammary, genital, and cardiac conduction-system formation. Haploinsufficiency causes ulnar-mammary syndrome, while abnormal expression can contribute to cancer-cell plasticity and invasion. This analysis covers 697 TBX3 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes ulnar-mammary syndrome, breast carcinoma, and Abnormality of the skeletal system. Example TBX3 variants include S2R, S2T, and L3R.

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, ClinGen, MaveDB, LitVar.

Notable TBX3 variants

Examples include S2R, S2T, L3R, M5I, A16T, D27Y, V33L, Q37H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.