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Results for the Protein: P31785
400048

IL2RG_HUMAN RecName: Full=Cytokine receptor common subunit gamma; AltName: Full=Interleukin-2 receptor subunit gamma; Short=IL-2 receptor subunit gamma; Short=IL-2R subunit gamma; Short=IL-2RG; AltName: Full=gammaC; AltName: Full=p64; AltName: CD_antigen=CD132; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED IMMUNODEFICIENCY, X-LINKED
  SEVERE COMBINED IMMUNODEFICIENCY X-LINKED T-CELL-NEGATIVE/B-CELL-POSITIVE/NK-CELL-NEGATIVE (XSCID)
  SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
  X-LINKED COMBINED IMMUNODEFICIENCY (XCID)
44
2
11
0
35
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IL6Ra-bind - pfam09240
FN3 - smart00060
FN3 - cd00063


Swiss-Prot Protein: P31785
Identical to: NP_000197
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000634.8e-05154248
IL6Ra-bindpfam092403.6e-0956151
FN3smart000600.00029154232

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002682Diseasep.ALA156VALSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002688Diseasep.ARG222CYSX-linked combined immunodeficiency (XCID)
Swiss-ProtVAR_002690Diseasep.ARG226CYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002701Diseasep.ARG285GLNSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002691Diseasep.ARG226HISSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002689Diseasep.ARG224TRPSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002672Diseasep.ASN84LYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002668Diseasep.ASP39ASNSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002677Diseasep.CYS115ARGSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002686Diseasep.CYS182ARGSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002669Diseasep.CYS62GLYSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002676Diseasep.CYS115PHESevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002694Diseasep.CYS231TYRSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002680Diseasep.GLN144PROSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002670Diseasep.GLU68GLYSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_020611Polymorphismp.GLU109LYSN/A
Swiss-ProtVAR_002671Diseasep.GLU68LYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002695Diseasep.GLY232ARGSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002675Diseasep.GLY114ASPSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002678Diseasep.HIS123PROSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002681Diseasep.ILE153ASNSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002685Diseasep.LEU172GLNSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002702Diseasep.LEU293GLNX-linked combined immunodeficiency (XCID)
Swiss-ProtVAR_002683Diseasep.LEU162HISSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002684Diseasep.LEU172PROSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002693Diseasep.LEU230PROSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002687Diseasep.LEU183SERSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002699Diseasep.MET270ARGSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002692Diseasep.PHE227CYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002698Diseasep.SER241ILESevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_059301Polymorphismp.THR44SERN/A
Swiss-ProtVAR_002697Diseasep.TRP240CYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002679Diseasep.TYR125ASNSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002674Diseasep.TYR105CYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
Swiss-ProtVAR_002673Diseasep.TYR89CYSSevere combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)
OMIM308380.0012 Diseasep.ARG222CYSCOMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0011 Diseasep.ARG285GLNSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0002 Diseasep.ARG267TERSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0010 Diseasep.CYS115ARGSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0004 Diseasep.CYS62TERSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0005 Diseasep.GLY114ASPSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0007 Diseasep.ILE153ASNSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0008 Diseasep.LEU271GLNCOMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0013 Diseasep.LEU151PROSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0001 Diseasep.LYS97TERSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
OMIM308380.0003 Diseasep.SER286TERSEVERE COMBINED IMMUNODEFICIENCY, X-LINKED



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