SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name P55895

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P55895 RAG2_HUMAN combined cellular and humoral immune defects with granulomas p.Thr77Asn
p.Gly451Ala


P55895 RAG2_HUMAN severe combined immunodeficiency autosomal recessive t-cell-negative/b-cell-negative/nk-cell-positive
P55895 RAG2_HUMAN omenn syndrome p.Cys41Trp
p.Met285Arg