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Results for the Protein: NP_001182068
304376294

conserved oligomeric Golgi complex subunit 4 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ
3
1
3
1
0
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Default View:

Cog4 - smart00762
COG4 - pfam08318




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4pfam083183.2e-135192502
Cog4smart007623.4e-136192502

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3931036 Polymorphismp.THR162ILEN/A
OMIM606976.0001 Diseasep.ARG708TRPCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
OMIM606976.0003 Diseasep.GLU233TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
OMIM606976.0004 Diseasep.LEU752ARGCONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj



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