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Results for the Protein: P38484
145559548

INGR2_HUMAN RecName: Full=Interferon gamma receptor 2; Short=IFN-gamma receptor 2; Short=IFN-gamma-R2; AltName: Full=Interferon gamma receptor accessory factor 1; Short=AF-1; AltName: Full=Interferon gamma transducer 1; Flags: Precursor

Known Diseases associated with this Protein:
  ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED
  MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE (MSMD)
2
4
1
3
2
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Default View:

Tissue_fac - pfam01108
Interfer-bind - pfam09294
FN3 - smart00060
FN3 - cd00063


Swiss-Prot Protein: P38484
Identical to: NP_005525
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000630.00025140237
Tissue_facpfam011082.7e-2624126
Interfer-bindpfam092944e-06138238
FN3smart000600.00091140221

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs9808753 Polymorphismp.GLN64ARGN/A
Swiss-ProtVAR_021383Polymorphismp.GLU147LYSN/A
dbSNPrs17878711 Polymorphismp.LYS182GLUN/A
dbSNPrs4986958 Polymorphismp.THR58ARGN/A
Swiss-ProtVAR_023281Diseasep.THR168ASNMendelian susceptibility to mycobacterial disease (MSMD)
OMIM147569.0002 Diseasep.THR168ASNATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED



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