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Results for the Protein: Q13563
116242717

PKD2_HUMAN RecName: Full=Polycystin-2; AltName: Full=Autosomal dominant polycystic kidney disease type II protein; AltName: Full=Polycystic kidney disease 2 protein; AltName: Full=Polycystwin; AltName: Full=R48321

Known Diseases associated with this Protein:
  POLYCYSTIC KIDNEY DISEASE 2
  POLYCYSTIC KIDNEY DISEASE 2 (PKD2)
15
6
5
1
15
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Default View:

PKD_channel - pfam08016
Ion_trans - pfam00520


Swiss-Prot Protein: Q13563
Identical to: NP_000288
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PKD_channelpfam080164.3e-234267687

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011073Diseasep.ALA356PROPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_064394Diseasep.ALA384PROPolycystic kidney disease 2 (PKD2)
dbSNPrs117078377 Polymorphismp.ALA190THRN/A
Swiss-ProtVAR_058822Diseasep.ARG306GLNPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_058823Diseasep.ARG322GLNPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_058830Diseasep.ARG807GLNPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_058825Diseasep.ARG420GLYPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_011072Polymorphismp.ARG28PRON/A
Swiss-ProtVAR_058824Diseasep.ARG322TRPPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_058827Diseasep.ASP511VALPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_058828Diseasep.CYS632ARGPolycystic kidney disease 2 (PKD2)
Swiss-ProtVAR_014919Polymorphismp.ILE452VALN/A
Swiss-ProtVAR_058829Polymorphismp.MET800LEUN/A
Swiss-ProtVAR_058826Polymorphismp.PHE482CYSN/A
Swiss-ProtVAR_058820Polymorphismp.PRO24LEUN/A
Swiss-ProtVAR_009195Diseasep.TRP414GLYPolycystic kidney disease 2 (PKD2)
OMIM173910.0005 Diseasep.ARG464TERPOLYCYSTIC KIDNEY DISEASE 2
OMIM173910.0002 Diseasep.ARG742TERPOLYCYSTIC KIDNEY DISEASE 2
OMIM173910.0008 Diseasep.ASP511VALPOLYCYSTIC KIDNEY DISEASE 2
OMIM173910.0003 Diseasep.GLN405TERPOLYCYSTIC KIDNEY DISEASE 2
OMIM173910.0001 Diseasep.TRP380TERPOLYCYSTIC KIDNEY DISEASE 2



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