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Results for the Protein: P42701
1170462

I12R1_HUMAN RecName: Full=Interleukin-12 receptor subunit beta-1; Short=IL-12 receptor subunit beta-1; Short=IL-12R subunit beta-1; Short=IL-12R-beta-1; Short=IL-12RB1; AltName: Full=IL-12 receptor beta component; AltName: CD_antigen=CD212; Flags: Precursor

Known Diseases associated with this Protein:
  MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE (MSMD)
  MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO
  MYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO
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Default View:

FN3 - cd00063
FN3 - smart00060
fn3 - pfam00041


Swiss-Prot Protein: P42701
Identical to: NP_005526
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000639.2e-15446539
fn3pfam000413.1e-10447532
FN3smart000606.1e-10446529

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11575926 Polymorphismp.ARG156HISN/A
Swiss-ProtVAR_015577Diseasep.ARG213TRPMendelian susceptibility to mycobacterial disease (MSMD)
dbSNPrs11575934 Polymorphismp.GLN214ARGN/A
dbSNPrs401502 Polymorphismp.GLY378ARGN/A
Swiss-ProtVAR_021285Polymorphismp.HIS339GLNN/A
dbSNPrs375947 Polymorphismp.MET365THRN/A
Swiss-ProtVAR_021281Polymorphismp.PRO3GLNN/A
dbSNPrs17887176 Polymorphismp.PRO47SERN/A
OMIM601604.0004 Diseasep.ARG213TRPMYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO
OMIM601604.0007 Diseasep.CYS198ARGMYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO
OMIM601604.0001 Diseasep.GLN32TERMYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO
OMIM601604.0002 Diseasep.GLN376TERMYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO



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