MCL1 (Q07820) variants and mutations

MCL1 (also known as Q07820) is a human protein-coding gene encoding an induced myeloid leukemia cell differentiation protein Mcl-1 protein. It provides a rapidly regulated anti-apoptotic signal at mitochondria by sequestering pro-death BCL-2-family proteins. Many cancers become dependent on elevated MCL1 for survival, making it an important target for anticancer drug development. This analysis covers 1,129 MCL1 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes neurodegenerative disease, Abnormality of the skeletal system, and prostate carcinoma. Example MCL1 variants include F2L, G3D, and L4F.

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, MaveDB, LitVar.

Notable MCL1 variants

Examples include F2L, G3D, L4F, L4H, L4P, L4V, R6K, N7K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.