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Results for the Protein: P52952
1708211

NKX25_HUMAN RecName: Full=Homeobox protein Nkx-2.5; AltName: Full=Cardiac-specific homeobox; AltName: Full=Homeobox protein CSX; AltName: Full=Homeobox protein NK-2 homolog E

Known Diseases associated with this Protein:
  ASPLENIA, ISOLATED CONGENITAL (ICAS)
  ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (ASD7)
  HYPOTHYROIDISM, CONGENITAL, NON-GOITROUS, 5 (CHNG5)
  TETRALOGY OF FALLOT (TOF)
  VENTRICULAR SEPTAL DEFECT 3 (VSD3)
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54
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HOX - smart00389


Swiss-Prot Protein: P52952
Identical to: NP_004378
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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 ↕
Swiss-ProtVAR_038227Diseasep.ALA127GLUAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_047869Diseasep.ALA119SERHypothyroidism, congenital, non-goitrous, 5 (CHNG5)
Swiss-ProtVAR_038229Diseasep.ALA135THRAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038253Diseasep.ALA323THRTetralogy of Fallot (TOF)
Swiss-ProtVAR_038240Diseasep.ALA219VALTetralogy of Fallot (TOF)
Swiss-ProtVAR_038246Diseasep.ALA281VALAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038247Diseasep.ALA286VALAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038219Diseasep.ALA63VALAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038230Diseasep.ARG142CYSAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038234Diseasep.ARG190CYSAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038239Diseasep.ARG216CYSTetralogy of Fallot (TOF)
Swiss-ProtVAR_010116Diseasep.ARG25CYSTetralogy of Fallot (TOF)
Swiss-ProtVAR_038252Diseasep.ARG322GLNAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_010118Diseasep.ARG189GLYAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_047870Diseasep.ARG161PROHypothyroidism, congenital, non-goitrous, 5 (CHNG5)
Swiss-ProtVAR_038248Diseasep.ASN294HISAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_010117Diseasep.ASN188LYSAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038214Diseasep.ASN19SERAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_049581Polymorphismp.ASP16ALAN/A
Swiss-ProtVAR_038241Diseasep.ASP226ASNAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038249Diseasep.ASP299GLYAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038222Diseasep.CYS114ARGAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038223Diseasep.CYS114SERAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038233Diseasep.GLN187HISAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038216Diseasep.GLN22PROTetralogy of Fallot (TOF)
Swiss-ProtVAR_038215Diseasep.GLU21GLNTetralogy of Fallot (TOF)
Swiss-ProtVAR_038226Diseasep.GLU126VALAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_069058Polymorphismp.GLY74ASPN/A
Swiss-ProtVAR_038251Diseasep.GLY320SERAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038231Diseasep.LEU144PROAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038220Diseasep.LEU69PROAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038212Diseasep.LEU7PROAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038224Diseasep.LYS118ARGAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038225Diseasep.LYS124ARGAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038235Diseasep.LYS192ARGAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038237Diseasep.LYS194ARGAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038232Diseasep.LYS183GLUAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038213Diseasep.LYS15ILEAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038236Diseasep.LYS192THRAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038218Diseasep.PHE51LEUAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_067586Diseasep.PRO59ALAVentricular septal defect 3 (VSD3)
Swiss-ProtVAR_067587Diseasep.PRO283GLNVentricular septal defect 3 (VSD3)
Swiss-ProtVAR_069590Diseasep.PRO236HISAsplenia, isolated congenital (ICAS)
Swiss-ProtVAR_038221Diseasep.PRO77LEUAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038228Diseasep.PRO133SERAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038243Diseasep.PRO275THRAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038250Diseasep.SER305GLYAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038244Diseasep.SER279PHEAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038245Diseasep.SER279PROAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038217Diseasep.SER45PROAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_003752Diseasep.THR178METAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_010119Diseasep.TYR191CYSAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038242Diseasep.TYR248HISAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)
Swiss-ProtVAR_038238Diseasep.VAL205GLUAtrial septal defect 7, with or without atrioventricular conduction defects (ASD7)



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