Results for the protein: Q9UPV0

Results for the Protein: Q9UPV0

162416241

22897

CEP164

NCBI, UniProt

CE164_HUMAN RecName: Full=Centrosomal protein of 164 kDa; Short=Cep164

Known Diseases associated with this Protein:
NEPHRONOPHTHISIS 15
NEPHRONOPHTHISIS 15 (NPHP15)

7

4

5

4

2

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Default View: WW - smart00456 WW - pfam00397 WW - cd00201	Swiss-Prot Protein: Q9UPV0 Identical to: NP_055771 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
WW	pfam00397	2.2e-05	58	87
WW	smart00456	4.1e-05	58	89

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068504	Disease	p.ARG93TRP	Nephronophthisis 15 (NPHP15)
dbSNP	rs573455	Polymorphism	p.GLN1119ARG	N/A
Swiss-Prot	VAR_068503	Disease	p.GLN11PRO	Nephronophthisis 15 (NPHP15)
dbSNP	rs490262	Polymorphism	p.SER94ASN	N/A
dbSNP	rs61743854	Polymorphism	p.THR1311SER	N/A
dbSNP	rs2305830	Polymorphism	p.THR988SER	N/A
OMIM	614848.0005	Disease	p.ARG576TER	NEPHRONOPHTHISIS 15
OMIM	614848.0003	Disease	p.ARG93TRP	NEPHRONOPHTHISIS 15
OMIM	614848.0002	Disease	p.GLN11PRO	NEPHRONOPHTHISIS 15
OMIM	614848.0004	Disease	p.GLN525TER	NEPHRONOPHTHISIS 15
OMIM	614848.0001	Disease	p.TER1460TRP	NEPHRONOPHTHISIS 15

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