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Results for the Protein: P25942
116000
958

TNR5_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member 5; AltName: Full=B-cell surface antigen CD40; AltName: Full=Bp50; AltName: Full=CD40L receptor; AltName: Full=CDw40; AltName: CD_antigen=CD40; Flags: Precursor

Known Diseases associated with this Protein:
  IMMUNODEFICIENCY WITH HYPER-IGM 3 (HIGM3)
  IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3
2
5
1
1
5
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Default View:

TNFR - cd00185
TNFR - smart00208
TNFR_c6 - pfam00020


Swiss-Prot Protein: P25942
Identical to: NP_001241
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TNFRcd001857e-4026123
TNFR_c6pfam000201.1e-092659
TNFRsmart002080.000292659
TNFRsmart002081.8e-0962103
TNFRsmart002081.7e-09105143
TNFRsmart002083.2e-06146186

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013628Diseasep.CYS83ARGImmunodeficiency with hyper-IgM 3 (HIGM3)
Swiss-ProtVAR_039301Polymorphismp.CYS26GLNN/A
Swiss-ProtVAR_018752Polymorphismp.PRO227ALAN/A
Swiss-ProtVAR_039302Polymorphismp.SER35GLYN/A
dbSNPrs11569321 Polymorphismp.SER124LEUN/A
Swiss-ProtVAR_039303Polymorphismp.SER39THRN/A
OMIM109535.0002 Diseasep.CYS83ARGIMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3



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