E2F1 (Transcription factor E2F1) variants and mutations

E2F1 (also known as Transcription factor E2F1) is a human protein-coding gene encoding a transcription factor protein. It activates genes required for DNA replication and cell-cycle progression but can also promote apoptosis after severe stress. Dysregulated E2F1 activity is common downstream of RB-pathway disruption in cancer and contributes to uncontrolled proliferation. This analysis covers 731 E2F1 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes benign prostatic hyperplasia, neurodegenerative disease, and Alzheimer disease. Example E2F1 variants include A2T, G5R, and A6S.

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 E2F1 variants

Examples include A2T, G5R, A6S, P7S, A8E, A8V, G9D, G9S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.