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Results for the Protein: NP_001167566
291575190

zinc finger E-box-binding homeobox 1 isoform e [Homo sapiens]

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
1
1
1
1
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Default View:

ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096
HOX - smart00389
homeodomain - cd00086




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000960.00011133155
zf-C2H2pfam000962.6e-06173195
zf-C2H2pfam000960.00083201225
zf-C2H2pfam000968.2e-05865887
ZnF_C2H2smart003550.00016103126
ZnF_C2H2smart003551.5e-05133155
ZnF_C2H2smart003551.8e-05173195
HOXsmart003898.9e-05515570
ZnF_C2H2smart003550.00038837859

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35753967 Polymorphismp.LYS486ARGN/A
OMIM189909.0004 Diseasep.GLN772PROCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6



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