Results for the protein: Q9ULV3

Results for the Protein: Q9ULV3

296434448

25792

CIZ1

NCBI, UniProt

CIZ1_HUMAN RecName: Full=Cip1-interacting zinc finger protein; AltName: Full=CDKN1A-interacting zinc finger protein 1; AltName: Full=Nuclear protein NP94; AltName: Full=Zinc finger protein 356

Known Diseases associated with this Protein:
VARIANT OF UNKNOWN SIGNIFICANCE

1

11

1

4

7

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Default View: zf-C2H2_jaz - pfam12171	Swiss-Prot Protein: Q9ULV3 Identical to: NP_001124488, NP_036259 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs45588035	Polymorphism	p.ALA219THR	N/A
Swiss-Prot	VAR_063106	Polymorphism	p.ARG847GLN	N/A
Swiss-Prot	VAR_067976	Polymorphism	p.ARG672MET	N/A
Swiss-Prot	VAR_067974	Polymorphism	p.GLN394GLU	N/A
dbSNP	rs45554035	Polymorphism	p.GLU370GLY	N/A
Swiss-Prot	VAR_067972	Polymorphism	p.PRO50LEU	N/A
Swiss-Prot	VAR_067971	Polymorphism	p.PRO47SER	N/A
Swiss-Prot	VAR_067973	Polymorphism	p.SER264GLY	N/A
Swiss-Prot	VAR_067975	Polymorphism	p.SER577PHE	N/A
dbSNP	rs12334	Polymorphism	p.SER578PHE	N/A
dbSNP	rs11549266	Polymorphism	p.VAL638MET	N/A
OMIM	611420.0001	Disease	p.SER234GLY	VARIANT OF UNKNOWN SIGNIFICANCE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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