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Results for the Protein: P55895
2498830

RAG2_HUMAN RecName: Full=V(D)J recombination-activating protein 2; Short=RAG-2

Known Diseases associated with this Protein:
  COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
  COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (CHIDG)
  OMENN SYNDROME
  OMENN SYNDROME (OS)
  OMENN SYNDROME, INCLUDED
  SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
13
3
9
1
6
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Swiss-Prot Protein: P55895
Identical to: NP_000527
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005570Polymorphismp.ARG229GLNN/A
Swiss-ProtVAR_008895Diseasep.CYS41TRPOmenn syndrome (OS)
Swiss-ProtVAR_005571Polymorphismp.CYS478TYRN/A
dbSNPrs16929093 Polymorphismp.GLU293GLYN/A
Swiss-ProtVAR_045962Diseasep.GLY451ALACombined cellular and humoral immune defects with granulomas (CHIDG)
Swiss-ProtVAR_008896Diseasep.MET285ARGOmenn syndrome (OS)
Swiss-ProtVAR_045960Diseasep.THR77ASNCombined cellular and humoral immune defects with granulomas (CHIDG)
OMIM179616.0002 Diseasep.ARG229GLNSEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE||OMENN SYNDROME, INCLUDED
OMIM179616.0008 Diseasep.ARG39GLYSEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE||OMENN SYNDROME, INCLUDED
OMIM179616.0003 Diseasep.CYS41TRPOMENN SYNDROME
OMIM179616.0001 Diseasep.CYS476TYRSEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
OMIM179616.0010 Diseasep.GLY451ALACOMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
OMIM179616.0005 Diseasep.GLY95ARGOMENN SYNDROME
OMIM179616.0004 Diseasep.MET285ARGOMENN SYNDROME
OMIM179616.0009 Diseasep.THR77ASNCOMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
OMIM179616.0007 Diseasep.TRP215ILESEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE



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