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Results for the Protein: P49711
1706179

CTCF_HUMAN RecName: Full=Transcriptional repressor CTCF; AltName: Full=11-zinc finger protein; AltName: Full=CCCTC-binding factor; AltName: Full=CTCFL paralog

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
1
4
1
0
4
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ZnF_C2H2 - smart00355


Swiss-Prot Protein: P49711
Identical to: NP_006556
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_C2H2smart003553.8e-06266288
ZnF_C2H2smart003550.00031294316
ZnF_C2H2smart003554.1e-05322345
ZnF_C2H2smart003550.00016351373
ZnF_C2H2smart003555e-05379401
ZnF_C2H2smart003550.00061523546

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013144Polymorphismp.ARG448GLNN/A
Swiss-ProtVAR_013141Polymorphismp.ARG339TRPN/A
Swiss-ProtVAR_013143Polymorphismp.HIS345ARGN/A
Swiss-ProtVAR_013142Polymorphismp.LYS344GLUN/A
OMIM604167.0003 Diseasep.ARG567TRPMENTAL RETARDATION, AUTOSOMAL DOMINANT 21



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