KIF11 (Kinesin-like protein KIF11) variants and mutations

KIF11 (also known as Kinesin-like protein KIF11) is a human protein-coding gene encoding a kinesin-like protein. It powers separation of spindle poles during mitosis and also contributes to microtubule organization in developing tissues. Heterozygous loss-of-function variants can cause microcephaly with or without chorioretinopathy, lymphedema, and developmental impairment. This analysis covers 1,090 KIF11 variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes microcephaly with or without chorioretinopathy, lymphedema, or intellectual disa, hereditary disease, and Retinal dystrophy. Example KIF11 variants include M1T, M1V, and A2V.

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 KIF11 variants

Examples include M1T, M1V, A2V, A2P, A2E, A2A, S3L, S3W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.