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Results for the Protein: Q5NDL2
74708096

EOGT_HUMAN RecName: Full=EGF domain-specific O-linked N-acetylglucosamine transferase; AltName: Full=Extracellular O-linked N-acetylglucosamine transferase; Flags: Precursor

Known Diseases associated with this Protein:
  ADAMS-OLIVER SYNDROME 4 (AOS4)
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DUF563 - pfam04577


Swiss-Prot Protein: Q5NDL2
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070091Diseasep.ARG377GLNAdams-Oliver syndrome 4 (AOS4)
Swiss-ProtVAR_070090Diseasep.TRP207SERAdams-Oliver syndrome 4 (AOS4)



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