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Results for the Protein: P05549
135302

AP2A_HUMAN RecName: Full=Transcription factor AP-2-alpha; Short=AP2-alpha; AltName: Full=AP-2 transcription factor; AltName: Full=Activating enhancer-binding protein 2-alpha; AltName: Full=Activator protein 2; Short=AP-2

Known Diseases associated with this Protein:
  BRANCHIOOCULOFACIAL SYNDROME
  BRANCHIOOCULOFACIAL SYNDROME (BOFS)
9
0
5
0
4
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Swiss-Prot Protein: P05549
Identical to: NP_003211
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_045839Diseasep.ARG254GLYBranchiooculofacial syndrome (BOFS)
Swiss-ProtVAR_045840Diseasep.ARG255GLYBranchiooculofacial syndrome (BOFS)
Swiss-ProtVAR_045841Diseasep.GLY262GLUBranchiooculofacial syndrome (BOFS)
Swiss-ProtVAR_045838Diseasep.LEU249PROBranchiooculofacial syndrome (BOFS)
OMIM107580.0007 Diseasep.ARG237GLNBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0001 Diseasep.ARG255GLYBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0006 Diseasep.GLU269LYSBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0002 Diseasep.GLY262GLUBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0004 Diseasep.PHE319SERBRANCHIOOCULOFACIAL SYNDROME



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