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Results for the Protein: P16422
160266056

EPCAM_HUMAN RecName: Full=Epithelial cell adhesion molecule; Short=Ep-CAM; AltName: Full=Adenocarcinoma-associated antigen; AltName: Full=Cell surface glycoprotein Trop-1; AltName: Full=Epithelial cell surface antigen; AltName: Full=Epithelial glycoprotein; Short=EGP; AltName: Full=Epithelial glycoprotein 314; Short=EGP314; Short=hEGP314; AltName: Full=KS 1/4 antigen; AltName: Full=KSA; AltName: Full=Major gastrointestinal tumor-associated protein GA733-2; AltName: Full=Tumor-associated calcium signal transducer 1; AltName: CD_antigen=CD326; Flags: Precursor

Known Diseases associated with this Protein:
  DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
  DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (DIAR5)
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2
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1
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Default View:

TY - cd00191
Thyroglobulin_1 - pfam00086
TY - smart00211


Swiss-Prot Protein: P16422
Identical to: NP_002345
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Thyroglobulin_1pfam000861.4e-2866135
TYsmart002112.7e-1096137

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063829Diseasep.CYS66TYRDiarrhea 5, with tufting enteropathy, congenital (DIAR5)
dbSNPrs1126497 Polymorphismp.MET115THRN/A
dbSNPrs74531854 Polymorphismp.THR172METN/A
OMIM185535.0007 Diseasep.ARG138TERDIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
OMIM185535.0003 Diseasep.CYS66TYRDIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL



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