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Results for the Protein: Q06430
543887

GNT2B_HUMAN RecName: Full=N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B; Short=N-acetylglucosaminyltransferase; AltName: Full=I-branching enzyme; AltName: Full=IGNT

Known Diseases associated with this Protein:
  CATARACT 13 WITH ADULT I PHENOTYPE
2
1
2
0
1
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Swiss-Prot Protein: Q06430
Identical to: NP_001482
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_049323Polymorphismp.PRO85ARGN/A
OMIM600429.0002 Diseasep.ARG381HISCATARACT 13 WITH ADULT i PHENOTYPE
OMIM600429.0001 Diseasep.GLY346GLUCATARACT 13 WITH ADULT i PHENOTYPE



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