LCK (Tyrosine-protein kinase Lck) variants and mutations

LCK (also known as Tyrosine-protein kinase Lck) is a human protein-coding gene encoding a tyrosine-protein kinase protein. It phosphorylates the earliest signaling components downstream of the T-cell receptor and CD4 or CD8 coreceptors, making it essential for T-cell development and activation. Severe loss-of-function can cause combined immunodeficiency, while aberrant activity contributes to lymphoid malignancy. This analysis covers 701 LCK variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes severe combined immunodeficiency due to LCK deficiency, acute lymphoblastic leukemia, and cancer. Example LCK variants include G2W, G2A, and G2V.

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 LCK variants

Examples include G2W, G2A, G2V, G2E, G2G, C3S, C3F, C3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.