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Results for the Protein: P14314
116242499

GLU2B_HUMAN RecName: Full=Glucosidase 2 subunit beta; AltName: Full=80K-H protein; AltName: Full=Glucosidase II subunit beta; AltName: Full=Protein kinase C substrate 60.1 kDa protein heavy chain; Short=PKCSH; Flags: Precursor

Known Diseases associated with this Protein:
  POLYCYSTIC LIVER DISEASE
2
3
2
1
2
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PRKCSH - pfam07915


Swiss-Prot Protein: P14314
Identical to: NP_002734
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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_048658Polymorphismp.ALA338GLYN/A
dbSNPrs11557488 Polymorphismp.ALA291THRN/A
Swiss-ProtVAR_028761Polymorphismp.SER74ASNN/A
OMIM177060.0004 Diseasep.GLN413TERPOLYCYSTIC LIVER DISEASE
OMIM177060.0005 Diseasep.TYR422TERPOLYCYSTIC LIVER DISEASE



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