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Results for the Protein: NP_001165124
284413746

zinc finger E-box-binding homeobox 2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MOWAT-WILSON SYNDROME
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6
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Default View:

ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096
HOX - smart00389




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000961.8e-05217239
zf-C2H2pfam000962.6e-06258280
zf-C2H2pfam000960.00083286310
zf-C2H2pfam000960.00036975997
ZnF_C2H2smart003550.00011187210
ZnF_C2H2smart003554.1e-06217239
ZnF_C2H2smart003551.8e-05258280
HOXsmart003890.0007621676
ZnF_C2H2smart003550.00014975997

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605802.0001 Diseasep.ARG525TERMOWAT-WILSON SYNDROME
OMIM605802.0002 Diseasep.ARG671TERMOWAT-WILSON SYNDROME
OMIM605802.0015 Diseasep.GLN1095ARGMOWAT-WILSON SYNDROME
OMIM605802.0017 Diseasep.HIS1021ARGMOWAT-WILSON SYNDROME
OMIM605802.0016 Diseasep.SER1047PROMOWAT-WILSON SYNDROME
OMIM605802.0009 Diseasep.SER828TERMOWAT-WILSON SYNDROME



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