Results for the protein: NP

Results for the Protein: NP_001180465

302129691

81704

DOCK8

NCBI

dedicator of cytokinesis protein 8 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: DUF3398 - pfam11878 C2_DOCK180_related - cd08679 C2_Dock-D - cd08697 C2_Dock-C - cd08696 Ded_cyto - pfam06920	RefSeq Protein: NP_001180465 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2_Dock-C	cd08696	6e-132	491	671
C2_Dock-D	cd08697	6.3e-52	491	671
DUF3398	pfam11878	1.6e-42	1	96
Ded_cyto	pfam06920	1.4e-98	1814	1991

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34908836	Polymorphism	p.ALA1902PRO	N/A
dbSNP	rs35482838	Polymorphism	p.ALA250THR	N/A
dbSNP	rs17673268	Polymorphism	p.ALA529VAL	N/A
dbSNP	rs73382631	Polymorphism	p.ASN1002ASP	N/A
dbSNP	rs10970979	Polymorphism	p.ASN345SER	N/A
dbSNP	rs11789099	Polymorphism	p.GLU169LYS	N/A
dbSNP	rs77399114	Polymorphism	p.ILE1121VAL	N/A
dbSNP	rs529208	Polymorphism	p.PRO29THR	N/A
dbSNP	rs34627722	Polymorphism	p.SER1009ASN	N/A
OMIM	611432.0001	Disease	p.LYS337ARG	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

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