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Results for the Protein: Q8NES3
27734417

LFNG_HUMAN RecName: Full=Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; AltName: Full=O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Known Diseases associated with this Protein:
  SPONDYLOCOSTAL DYSOSTOSIS 3 (SCDO3)
  SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
2
2
1
0
3
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Swiss-Prot Protein: Q8NES3
Identical to: NP_001035257
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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_046785Polymorphismp.GLY38ARGN/A
Swiss-ProtVAR_025850Diseasep.PHE188LEUSpondylocostal dysostosis 3 (SCDO3)
Swiss-ProtVAR_046786Polymorphismp.VAL346METN/A
OMIM602576.0001 Diseasep.PHE188LEUSPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE



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