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Results for the Protein: P49335
77416874

PO3F4_HUMAN RecName: Full=POU domain, class 3, transcription factor 4; AltName: Full=Brain-specific homeobox/POU domain protein 4; Short=Brain-4; Short=Brn-4; AltName: Full=Octamer-binding protein 9; Short=Oct-9; AltName: Full=Octamer-binding transcription factor 9; Short=OTF-9

Known Diseases associated with this Protein:
  DEAFNESS, X-LINKED, 2 (DFNX2)
5
1
0
0
6
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Default View:

POU - smart00352
Pou - pfam00157
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


Swiss-Prot Protein: P49335
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000863e-19279337
Poupfam001571.8e-52186260
Homeoboxpfam000462.2e-23279335
POUsmart003527.7e-55186260
HOXsmart003891.5e-18279334

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003782Diseasep.ALA312VALDeafness, X-linked, 2 (DFNX2)
Swiss-ProtVAR_003784Diseasep.ARG323GLYDeafness, X-linked, 2 (DFNX2)
Swiss-ProtVAR_003785Diseasep.ARG330SERDeafness, X-linked, 2 (DFNX2)
Swiss-ProtVAR_067431Polymorphismp.GLY237ALAN/A
Swiss-ProtVAR_003783Diseasep.LEU317TRPDeafness, X-linked, 2 (DFNX2)
Swiss-ProtVAR_003786Diseasep.LYS334GLUDeafness, X-linked, 2 (DFNX2)



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