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Results for the Protein: Q16625
3914196

OCLN_HUMAN RecName: Full=Occludin

Known Diseases associated with this Protein:
  BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA
  BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (BLCPMG)
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1
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1
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Default View:

Occludin_ELL - pfam07303


Swiss-Prot Protein: Q16625
Identical to: NP_002529, NP_001192183
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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_064910Diseasep.PHE219SERBand-like calcification with simplified gyration and polymicrogyria (BLCPMG)
OMIM602876.0003 Diseasep.PHE219SERBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA



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