ABL2 (Tyrosine-protein kinase ABL2) variants and mutations

ABL2 (also known as Tyrosine-protein kinase ABL2) is a human protein-coding gene encoding a tyrosine-protein kinase protein. A non-receptor tyrosine kinase that helps control actin-cytoskeleton remodeling in response to cellular signals. This supports changes in cell shape and movement. This analysis covers 2,040 ABL2 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes neurodegenerative disease, lung carcinoma, and pancreatic ductal adenocarcinoma. Example ABL2 variants include G2E, G2W, and Q3E.

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, MaveDB, LitVar.

Notable ABL2 variants

Examples include G2E, G2W, Q3E, Q3S, Q4*, Q4E, Q4R, V5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.