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Results for the Protein: P37275
6166575

ZEB1_HUMAN RecName: Full=Zinc finger E-box-binding homeobox 1; AltName: Full=NIL-2-A zinc finger protein; AltName: Full=Negative regulator of IL2; AltName: Full=Transcription factor 8; Short=TCF-8

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (FECD6)
7
2
2
2
5
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Default View:

ZnF_C2H2 - smart00355
HOX - smart00389


Swiss-Prot Protein: P37275
Identical to: NP_110378
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_C2H2smart003551.5e-05200222
ZnF_C2H2smart003551.8e-05240262
HOXsmart003898.9e-05582637
ZnF_C2H2smart003550.00038904926

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063763Diseasep.ALA905THRCorneal dystrophy, Fuchs endothelial, 6 (FECD6)
dbSNPrs80194531 Diseasep.ASN78THRCorneal dystrophy, Fuchs endothelial, 6 (FECD6)
Swiss-ProtVAR_063761Diseasep.GLN810PROCorneal dystrophy, Fuchs endothelial, 6 (FECD6)
Swiss-ProtVAR_063762Diseasep.GLN840PROCorneal dystrophy, Fuchs endothelial, 6 (FECD6)
Swiss-ProtVAR_052731Polymorphismp.GLY90ARGN/A
dbSNPrs35753967 Polymorphismp.LYS553ARGN/A
Swiss-ProtVAR_063760Diseasep.PRO649ALACorneal dystrophy, Fuchs endothelial, 6 (FECD6)
OMIM189909.0003 Diseasep.ASN78THRCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
OMIM189909.0004 Diseasep.GLN839PROCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6



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