SYK (Tyrosine-protein kinase SYK) variants and mutations

SYK (also known as Tyrosine-protein kinase SYK) is a human protein-coding gene encoding a tyrosine-protein kinase protein. It transmits signals from immunoreceptors containing ITAM motifs, including the B-cell receptor and Fc receptors, to downstream calcium, NF-kappaB, and MAPK pathways. Aberrant activity contributes to B-cell malignancy and autoimmune inflammation and is therapeutically targetable. This analysis covers 1,221 SYK variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes immunodeficiency 82 with systemic inflammation, cutaneous leishmaniasis, and Immunodeficiency. Example SYK variants include A2G, A2T, 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, MaveDB, LitVar.

Notable SYK variants

Examples include A2G, A2T, A2V, A2S, A2D, A2A, S3N, S3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.