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Results for the Protein: NP_001027451
73760407

transcription factor AP-2-alpha isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  BRANCHIOOCULOFACIAL SYNDROME
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TF_AP-2 - pfam03299




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TF_AP-2pfam032994.2e-141203408

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM107580.0007 Diseasep.ARG231GLNBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0001 Diseasep.ARG249GLYBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0006 Diseasep.GLU263LYSBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0002 Diseasep.GLY256GLUBRANCHIOOCULOFACIAL SYNDROME
OMIM107580.0004 Diseasep.PHE313SERBRANCHIOOCULOFACIAL SYNDROME



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