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Results for the Protein: NP_001230715
344925930

V(D)J recombination-activating protein 2 [Homo sapiens]

Known Diseases associated with this Protein:
  COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
  OMENN SYNDROME
  OMENN SYNDROME, INCLUDED
  SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
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RAG2 - pfam03089




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 ↕
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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