PHF6 (PHD finger protein 6) variants and mutations

PHF6 (also known as PHD finger protein 6) is a human protein-coding gene encoding a PHD finger protein 6 protein. It participates in chromatin regulation, transcription, and ribosome biogenesis during development and hematopoiesis. Germline loss-of-function variants cause Borjeson-Forssman-Lehmann syndrome, while somatic mutations occur recurrently in T-cell leukemia and myeloid malignancies. This analysis covers 632 PHF6 variants and mutations. Of these, 51% have computational variant effect predictions. Disease context includes Borjeson-Forssman-Lehmann syndrome, neurodegenerative disease, and hereditary disease. Example PHF6 variants include M1?, M1I, and M1T.

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 PHF6 variants

Examples include M1?, M1I, M1T, S2*, S3S, S4*, S4A, V5A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.