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Results for the Protein: Q9H9E3
311033464

COG4_HUMAN RecName: Full=Conserved oligomeric Golgi complex subunit 4; Short=COG complex subunit 4; AltName: Full=Component of oligomeric Golgi complex 4

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION 2J (CDG2J)
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Default View:

Cog4 - smart00762
COG4 - pfam08318


Swiss-Prot Protein: Q9H9E3
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4pfam083183.2e-135188498
Cog4smart007623.4e-136188498

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063767Diseasep.ARG729TRPCongenital disorder of glycosylation 2J (CDG2J)
Swiss-ProtVAR_058009Polymorphismp.THR158ILEN/A



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