Results for the protein: Q96JG9

Results for the Protein: Q96JG9

158518658

84627

ZNF469

NCBI, UniProt

ZN469_HUMAN RecName: Full=Zinc finger protein 469

Known Diseases associated with this Protein:
BRITTLE CORNEA SYNDROME 1

2

17

2

12

5

Tips:

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Default View: ZnF_C2H2 - smart00355 zf-C2H2 - pfam00096	Swiss-Prot Protein: Q96JG9 Identical to: NP_001120936 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnF_C2H2	smart00355	0.00012	3390	3412

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3812955	Polymorphism	p.ALA2710THR	N/A
dbSNP	rs117555121	Polymorphism	p.ALA491THR	N/A
dbSNP	rs79339739	Polymorphism	p.ARG3317HIS	N/A
dbSNP	rs13334190	Polymorphism	p.ARG2129LYS	N/A
dbSNP	rs11640794	Polymorphism	p.ARG366SER	N/A
Swiss-Prot	VAR_033292	Polymorphism	p.ASP2749VAL	N/A
dbSNP	rs1105066	Polymorphism	p.GLU3630GLN	N/A
dbSNP	rs12598474	Polymorphism	p.GLY2358ARG	N/A
dbSNP	rs28723506	Polymorphism	p.GLY497ARG	N/A
dbSNP	rs79155191	Polymorphism	p.GLY1983ASP	N/A
Swiss-Prot	VAR_033293	Polymorphism	p.HIS2848ARG	N/A
dbSNP	rs3812956	Polymorphism	p.LEU2670GLN	N/A
Swiss-Prot	VAR_033286	Polymorphism	p.LYS1162GLU	N/A
dbSNP	rs115183769	Polymorphism	p.PRO1189LEU	N/A
dbSNP	rs4782300	Polymorphism	p.PRO1420LEU	N/A
Swiss-Prot	VAR_061949	Polymorphism	p.SER357PRO	N/A
Swiss-Prot	VAR_033295	Polymorphism	p.THR3636ALA	N/A
OMIM	612078.0003	Disease	p.CYS3339TYR	BRITTLE CORNEA SYNDROME 1
OMIM	612078.0004	Disease	p.GLU1392TER	BRITTLE CORNEA SYNDROME 1

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