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Results for the Protein: P50548
50403684
ERF

ERF_HUMAN RecName: Full=ETS domain-containing transcription factor ERF; AltName: Full=Ets2 repressor factor; AltName: Full=PE-2

Known Diseases associated with this Protein:
  CRANIOSYNOSTOSIS 4
  CRANIOSYNOSTOSIS 4 (CRS4)
6
1
4
0
3
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Default View:

ETS - smart00413
Ets - pfam00178


Swiss-Prot Protein: P50548
Identical to: NP_006485
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Etspfam001782.9e-5526109
ETSsmart004134.4e-5226111

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070099Diseasep.ARG86CYSCraniosynostosis 4 (CRS4)
Swiss-ProtVAR_070098Diseasep.ARG65GLNCraniosynostosis 4 (CRS4)
Swiss-ProtVAR_048947Polymorphismp.ARG205HISN/A
OMIM611888.0003 Diseasep.ARG86CYSCRANIOSYNOSTOSIS 4
OMIM611888.0004 Diseasep.ARG65GLNCRANIOSYNOSTOSIS 4
OMIM611888.0001 Diseasep.ARG183TERCRANIOSYNOSTOSIS 4
OMIM611888.0005 Diseasep.GLN424TERCRANIOSYNOSTOSIS 4



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