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Results for the Protein: Q92481
152031557

AP2B_HUMAN RecName: Full=Transcription factor AP-2-beta; Short=AP2-beta; AltName: Full=Activating enhancer-binding protein 2-beta

Known Diseases associated with this Protein:
  CHAR SYNDROME
  CHAR SYNDROME (CHAR)
12
0
6
0
6
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TF_AP-2 - pfam03299


Swiss-Prot Protein: Q92481
Identical to: NP_003212
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011318Diseasep.ALA275ASPChar syndrome (CHAR)
Swiss-ProtVAR_016978Diseasep.ARG236CYSChar syndrome (CHAR)
Swiss-ProtVAR_011319Diseasep.ARG300CYSChar syndrome (CHAR)
Swiss-ProtVAR_016980Diseasep.ARG285GLNChar syndrome (CHAR)
Swiss-ProtVAR_016979Diseasep.ARG236SERChar syndrome (CHAR)
Swiss-ProtVAR_016977Diseasep.PRO73ARGChar syndrome (CHAR)
OMIM601601.0001 Diseasep.ALA264ASPCHAR SYNDROME
OMIM601601.0003 Diseasep.ARG225CYSCHAR SYNDROME
OMIM601601.0002 Diseasep.ARG289CYSCHAR SYNDROME
OMIM601601.0005 Diseasep.ARG274GLNCHAR SYNDROME
OMIM601601.0004 Diseasep.ARG225SERCHAR SYNDROME
OMIM601601.0006 Diseasep.PRO62ARGCHAR SYNDROME



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