BLM (RecQ-like DNA helicase BLM) variants and mutations

BLM (also known as RecQ-like DNA helicase BLM) is a human protein-coding gene encoding a recQ-like DNA helicase protein. It unwinds complex DNA structures and helps resolve homologous-recombination intermediates, thereby suppressing inappropriate sister-chromatid exchanges and maintaining genome stability. Biallelic loss-of-function variants cause Bloom syndrome, characterized by growth deficiency, chromosome instability, and marked cancer predisposition. This analysis covers 3,337 BLM variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes Bloom syndrome, Inherited cancer-predisposing syndrome, and hereditary neoplastic syndrome. Example BLM variants include M1L, M1T, and M1V.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable BLM variants

Examples include M1L, M1T, M1V, A2D, A2S, A2V, A2A, A3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.