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Results for the Protein: Q96D53
74731415

ADCK4_HUMAN RecName: Full=Uncharacterized aarF domain-containing protein kinase 4

Known Diseases associated with this Protein:
  NEPHROTIC SYNDROME 9 (NPHS9)
  NEPHROTIC SYNDROME, TYPE 9
10
5
5
3
7
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Default View:

AarF - COG0661
ABC1 - pfam03109


Swiss-Prot Protein: Q96D53
Identical to: NP_079152
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AarFCOG06614.8e-4383543
ABC1pfam031097.4e-43197313

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11538384 Polymorphismp.ARG78CYSN/A
Swiss-ProtVAR_070556Diseasep.ARG477GLNNephrotic syndrome 9 (NPHS9)
Swiss-ProtVAR_070552Diseasep.ARG178TRPNephrotic syndrome 9 (NPHS9)
Swiss-ProtVAR_070554Diseasep.ARG320TRPNephrotic syndrome 9 (NPHS9)
Swiss-ProtVAR_070555Diseasep.ARG343TRPNephrotic syndrome 9 (NPHS9)
Swiss-ProtVAR_070553Diseasep.ASP286GLYNephrotic syndrome 9 (NPHS9)
dbSNPrs3865452 Polymorphismp.HIS174ARGN/A
dbSNPrs36012476 Polymorphismp.THR352ARGN/A
Swiss-ProtVAR_041421Polymorphismp.THR318METN/A
Swiss-ProtVAR_041423Polymorphismp.THR462METN/A
OMIM615567.0001 Diseasep.ARG178TRPNEPHROTIC SYNDROME, TYPE 9
OMIM615567.0004 Diseasep.ARG320TRPNEPHROTIC SYNDROME, TYPE 9
OMIM615567.0005 Diseasep.ARG343TRPNEPHROTIC SYNDROME, TYPE 9
OMIM615567.0002 Diseasep.ASP286GLYNEPHROTIC SYNDROME, TYPE 9
OMIM615567.0003 Diseasep.GLU483TERNEPHROTIC SYNDROME, TYPE 9



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