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Results for the Protein: Q8NF50
158937439

DOCK8_HUMAN RecName: Full=Dedicator of cytokinesis protein 8

Known Diseases associated with this Protein:
  HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
  HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE (AR-HIES)
2
13
1
11
3
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Default View:

DUF3398 - pfam11878
C2_DOCK180_related - cd08679
C2_Dock-D - cd08697
C2_Dock-C - cd08696
Ded_cyto - pfam06920


Swiss-Prot Protein: Q8NF50
Identical to: NP_982272
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C2_Dock-Ccd086966e-132559739
C2_Dock-Dcd086976.3e-52559739
DUF3398pfam118781.6e-4269164
Ded_cytopfam069201.4e-9818822059

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34908836 Polymorphismp.ALA1970PRON/A
dbSNPrs35482838 Polymorphismp.ALA318THRN/A
dbSNPrs506121 Polymorphismp.ALA22VALN/A
dbSNPrs17673268 Polymorphismp.ALA597VALN/A
Swiss-ProtVAR_033892Polymorphismp.ARG1008TRPN/A
dbSNPrs73382631 Polymorphismp.ASN1070ASPN/A
dbSNPrs10970979 Polymorphismp.ASN413SERN/A
dbSNPrs3209441 Polymorphismp.ASP63ASNN/A
Swiss-ProtVAR_059972Polymorphismp.GLU169LYSN/A
dbSNPrs11789099 Polymorphismp.GLU237LYSN/A
dbSNPrs77399114 Polymorphismp.ILE1189VALN/A
Swiss-ProtVAR_063753Diseasep.LYS473ARGHyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES)
dbSNPrs529208 Polymorphismp.PRO97THRN/A
dbSNPrs34627722 Polymorphismp.SER1077ASNN/A
OMIM611432.0001 Diseasep.LYS405ARGHYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE



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