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Results for the Protein: O60315
13124503

ZEB2_HUMAN RecName: Full=Zinc finger E-box-binding homeobox 2; AltName: Full=Smad-interacting protein 1; Short=SMADIP1; AltName: Full=Zinc finger homeobox protein 1b

Known Diseases associated with this Protein:
  MOWAT-WILSON SYNDROME
  MOWAT-WILSON SYNDROME (MOWS)
8
1
6
0
3
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Default View:

ZnF_C2H2 - smart00355
HOX - smart00389


Swiss-Prot Protein: O60315
Identical to: NP_055610
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_C2H2smart003554.1e-06241263
ZnF_C2H2smart003551.8e-05282304
HOXsmart003890.0007645700
ZnF_C2H2smart003550.000149991021

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027017Diseasep.ARG953GLYMowat-Wilson syndrome (MOWS)
Swiss-ProtVAR_035563Polymorphismp.ASP983ASNN/A
Swiss-ProtVAR_027018Diseasep.GLN1119ARGMowat-Wilson syndrome (MOWS)
OMIM605802.0001 Diseasep.ARG549TERMOWAT-WILSON SYNDROME
OMIM605802.0002 Diseasep.ARG695TERMOWAT-WILSON SYNDROME
OMIM605802.0015 Diseasep.GLN1119ARGMOWAT-WILSON SYNDROME
OMIM605802.0017 Diseasep.HIS1045ARGMOWAT-WILSON SYNDROME
OMIM605802.0016 Diseasep.SER1071PROMOWAT-WILSON SYNDROME
OMIM605802.0009 Diseasep.SER852TERMOWAT-WILSON SYNDROME



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