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Results for the Protein: Q8WW38
126302543

FOG2_HUMAN RecName: Full=Zinc finger protein ZFPM2; AltName: Full=Friend of GATA protein 2; Short=FOG-2; Short=Friend of GATA 2; Short=hFOG-2; AltName: Full=Zinc finger protein 89B; AltName: Full=Zinc finger protein multitype 2

Known Diseases associated with this Protein:
  DIAPHRAGMATIC HERNIA 3
  DOUBLE-OUTLET RIGHT VENTRICLE
  DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED
  TETRALOGY OF FALLOT
  TETRALOGY OF FALLOT (TOF)
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Swiss-Prot Protein: Q8WW38
Identical to: NP_036214
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11993776 Polymorphismp.ALA403GLYN/A
dbSNPrs16873741 Polymorphismp.ALA1055VALN/A
dbSNPrs2920048 Polymorphismp.GLU782ASPN/A
Swiss-ProtVAR_017942Diseasep.GLU30GLYTetralogy of Fallot (TOF)
dbSNPrs28374544 Diseasep.SER657GLYTetralogy of Fallot (TOF)
OMIM603693.0003 Diseasep.ARG112TERDIAPHRAGMATIC HERNIA 3
OMIM603693.0002 Diseasep.GLU30GLYTETRALOGY OF FALLOT||DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED
OMIM603693.0006 Diseasep.ILE227METDOUBLE-OUTLET RIGHT VENTRICLE
OMIM603693.0008 Diseasep.LYS737GLUDOUBLE-OUTLET RIGHT VENTRICLE
OMIM603693.0007 Diseasep.MET544ILETETRALOGY OF FALLOT
OMIM603693.0004 Diseasep.MET703LEUDIAPHRAGMATIC HERNIA 3||DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED
OMIM603693.0001 Diseasep.SER657GLYTETRALOGY OF FALLOT
OMIM603693.0005 Diseasep.THR843ALADIAPHRAGMATIC HERNIA 3



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