PTPRC (P08575) variants and mutations

PTPRC (also known as P08575) is a human protein-coding gene encoding a receptor-type tyrosine-protein phosphatase C protein. It controls phosphorylation of Src-family kinases and is essential for effective antigen-receptor signaling in nearly all nucleated blood cells. Biallelic loss-of-function variants can cause severe combined immunodeficiency. This analysis covers 1,829 PTPRC variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes immunodeficiency 104, immunodeficiency 105, and T-B+ severe combined immunodeficiency due to JAK3 deficiency. Example PTPRC variants include M1?, M1I, and T2I.

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 PTPRC variants

Examples include M1?, M1I, T2I, T2N, T2S, T2T, M3I, M3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.