FANCD2 (Fanconi anemia group D2 protein) variants and mutations

FANCD2 (also known as Fanconi anemia group D2 protein) is a human protein-coding gene encoding a fanconi anemia group D2 protein. Its damage-induced monoubiquitination recruits and coordinates nucleases and homologous-recombination factors at stalled replication forks and interstrand crosslinks. Biallelic loss-of-function variants cause Fanconi anemia group D2. This analysis covers 2,670 FANCD2 variants and mutations. Of these, 63% have computational variant effect predictions. Disease context includes Fanconi anemia complementation group D2, Fanconi anemia, and acute myeloid leukemia. Example FANCD2 variants include M1T, M1L, 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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable FANCD2 variants

Examples include M1T, M1L, M1V, M1R, M1I, S3F, S3T, K4Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.