RPA1 (P27694) variants and mutations

RPA1 (also known as P27694) is a human protein-coding gene encoding a replication protein A 70 kDa DNA-binding subunit protein. It binds single-stranded DNA during replication, recombination, and repair, protecting exposed DNA and coordinating checkpoint and repair proteins. Rare pathogenic variants can cause telomere and genome-maintenance disorders, while somatic dysregulation contributes to replication-stress tolerance in cancer. This analysis covers 662 RPA1 variants and mutations. Of these, 9.2% have computational variant effect predictions. Disease context includes pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, non-small cell lung adenocarcinoma, and cancer. Example RPA1 variants include V2F, G3A, and G3C.

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 RPA1 variants

Examples include V2F, G3A, G3C, G3D, G3S, Q4H, Q4K, S6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.