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Results for the Protein: Q9NP85
12230467

PODO_HUMAN RecName: Full=Podocin

Known Diseases associated with this Protein:
  NEPHROTIC SYNDROME 2 (NPHS2)
  NEPHROTIC SYNDROME, TYPE 2
  NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
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PHB - smart00244


Swiss-Prot Protein: Q9NP85
Identical to: NP_055440
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PHBsmart002443.6e-30123282

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61747727 Polymorphismp.ALA242VALN/A
Swiss-ProtVAR_010233Diseasep.ARG138GLNNephrotic syndrome 2 (NPHS2)
Swiss-ProtVAR_010236Diseasep.ARG291TRPNephrotic syndrome 2 (NPHS2)
Swiss-ProtVAR_010234Diseasep.ASP160GLYNephrotic syndrome 2 (NPHS2)
Swiss-ProtVAR_010232Diseasep.GLY92CYSNephrotic syndrome 2 (NPHS2)
Swiss-ProtVAR_010231Diseasep.PRO20LEUNephrotic syndrome 2 (NPHS2)
Swiss-ProtVAR_010235Diseasep.VAL180METNephrotic syndrome 2 (NPHS2)
OMIM604766.0001 Diseasep.ARG138GLNNEPHROTIC SYNDROME, TYPE 2
OMIM604766.0011 Diseasep.ARG229GLNNEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
OMIM604766.0002 Diseasep.ARG138TERNEPHROTIC SYNDROME, TYPE 2
OMIM604766.0010 Diseasep.ARG291TRPNEPHROTIC SYNDROME, TYPE 2
OMIM604766.0008 Diseasep.ASP160GLYNEPHROTIC SYNDROME, TYPE 2
OMIM604766.0007 Diseasep.GLY92CYSNEPHROTIC SYNDROME, TYPE 2
OMIM604766.0006 Diseasep.PRO20LEUNEPHROTIC SYNDROME, TYPE 2
OMIM604766.0009 Diseasep.VAL180METNEPHROTIC SYNDROME, TYPE 2



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