SOCS1 (O15524) variants and mutations

SOCS1 (also known as O15524) is a human protein-coding gene encoding a suppressor of cytokine signaling 1 protein. It provides inducible negative feedback on cytokine signaling by inhibiting JAK kinases and promoting degradation of signaling components. Haploinsufficiency can cause early-onset autoimmunity and immune dysregulation, while somatic loss contributes to some lymphomas. This analysis covers 1,074 SOCS1 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes autoinflammatory syndrome with immunodeficiency, diffuse large B-cell lymphoma, and psoriasis. Example SOCS1 variants include M1?, M1I, and V2*.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SOCS1 variants

Examples include M1?, M1I, V2*, V2A, V2E, V2I, V2L, A3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.