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Results for the Protein: P78424
327478564

PO6F2_HUMAN RecName: Full=POU domain, class 6, transcription factor 2; AltName: Full=Retina-derived POU domain factor 1; Short=RPF-1

Known Diseases associated with this Protein:
  HEREDITARY SUSCEPTIBILITY TO WILMS TUMOR 5 (WT5)
  WILMS TUMOR, SUSCEPTIBILITY TO
2
3
1
2
2
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Default View:

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


Swiss-Prot Protein: P78424
Identical to: NP_009183
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Poupfam001577.7e-25476586
Homeoboxpfam000462e-21608664
POUsmart003524.2e-27476586
HOXsmart003891.2e-21608663

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022419Diseasep.GLN192HISHereditary susceptibility to Wilms tumor 5 (WT5)
dbSNPrs7804851 Polymorphismp.GLU639LYSN/A
Swiss-ProtVAR_028411Polymorphismp.LEU500METN/A
dbSNPrs2074936 Polymorphismp.PRO199LEUN/A
OMIM609062.0001 Diseasep.GLN184HISWILMS TUMOR, SUSCEPTIBILITY TO



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