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Results for the Protein: Q9H3D4
57013009

P63_HUMAN RecName: Full=Tumor protein 63; Short=p63; AltName: Full=Chronic ulcerative stomatitis protein; Short=CUSP; AltName: Full=Keratinocyte transcription factor KET; AltName: Full=Transformation-related protein 63; Short=TP63; AltName: Full=Tumor protein p73-like; Short=p73L; AltName: Full=p40; AltName: Full=p51

Known Diseases associated with this Protein:
  3
  ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME (ADULT SYNDROME)
  ADULT SYNDROME
  ADULT SYNDROME, INCLUDED
  ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
  ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE (AEC)
  ECTODERMAL DYSPLASIA, RAPP-HODGKIN TYPE (EDRH)
  ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME
  ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 (EEC3)
  NON-SYNDROMIC OROFACIAL CLEFT 8 (OFC8)
  OROFACIAL CLEFT 8
  RAPP-HODGKIN SYNDROME
  RAPP-HODGKIN SYNDROME, INCLUDED
  SPLIT-HAND/FOOT MALFORMATION 4
  SPLIT-HAND/FOOT MALFORMATION 4 (SHFM4)
47
7
21
0
33
Tips:
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Default View:

P53 - pfam00870
P53 - cd08367
P53_tetramer - pfam07710
SAM - smart00454
SAM_2 - pfam07647
- cd00166


Swiss-Prot Protein: Q9H3D4
Identical to: NP_003713
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
P53cd083671.1e-106177359
cd001669.1e-10543605
P53pfam008702.2e-149163359
P53_tetramerpfam077103.4e-20392432
SAM_2pfam076475.4e-13541605
SAMsmart004542.9e-09541607

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020867Polymorphismp.ALA187PRON/A
Swiss-ProtVAR_032741Diseasep.ARG318CYSEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020874Diseasep.ARG319CYSEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020870Diseasep.ARG243GLNEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_032738Diseasep.ARG266GLNEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_032742Diseasep.ARG318GLNEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020875Diseasep.ARG337GLNAcro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)
Swiss-ProtVAR_020876Diseasep.ARG343GLNEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_035127Diseasep.ARG352GLYNon-syndromic orofacial cleft 8 (OFC8)
Swiss-ProtVAR_020873Diseasep.ARG318HISEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_032743Diseasep.ARG319HISSplit-hand/foot malformation 4 (SHFM4)
Swiss-ProtVAR_032744Diseasep.ARG319SEREctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020871Diseasep.ARG243TRPEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_032745Diseasep.ARG343TRPEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020878Diseasep.ASP351GLYEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_032748Diseasep.ASP351HISEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_035130Polymorphismp.ASP603HISN/A
Swiss-ProtVAR_020877Diseasep.CYS345ARGEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020881Diseasep.CYS561GLYAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC)
Swiss-ProtVAR_032746Diseasep.CYS347SEREctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_032739Diseasep.CYS308TYREctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020868Polymorphismp.GLN204LEUN/A
Swiss-ProtVAR_035128Diseasep.ILE549THREctodermal dysplasia, Rapp-Hodgkin type (EDRH)
Swiss-ProtVAR_020879Diseasep.LEU553PHEAnkyloblepharon-ectodermal defects-cleft lip/palate (AEC)
Swiss-ProtVAR_032737Diseasep.LYS232GLUSplit-hand/foot malformation 4 (SHFM4)
Swiss-ProtVAR_020869Diseasep.LYS233GLUSplit-hand/foot malformation 4 (SHFM4)
Swiss-ProtVAR_020872Polymorphismp.PRO279HISN/A
Swiss-ProtVAR_032747Diseasep.PRO348SEREctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_020880Polymorphismp.SER560ALAN/A
Swiss-ProtVAR_032740Diseasep.SER311ASNEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
Swiss-ProtVAR_035126Polymorphismp.SER129LEUN/A
Swiss-ProtVAR_020866Polymorphismp.SER184LEUN/A
Swiss-ProtVAR_035129Diseasep.SER580PROEctodermal dysplasia, Rapp-Hodgkin type (EDRH)
OMIM603273.0006 Diseasep.ARG280CYSSPLIT-HAND/FOOT MALFORMATION 4
OMIM603273.0023 Diseasep.ARG97CYSSPLIT-HAND/FOOT MALFORMATION 4
OMIM603273.0002 Diseasep.ARG204GLNECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
OMIM603273.0024 Diseasep.ARG227GLNECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||ADULT SYNDROME, INCLUDED
OMIM603273.0014 Diseasep.ARG298GLNADULT SYNDROME
OMIM603273.0008 Diseasep.ARG304GLNECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
OMIM603273.0022 Diseasep.ARG298GLYADULT SYNDROME
OMIM603273.0021 Diseasep.ARG313GLYOROFACIAL CLEFT 8
OMIM603273.0007 Diseasep.ARG279HISECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||RAPP-HODGKIN SYNDROME, INCLUDED
OMIM603273.0028 Diseasep.ARG227PROECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
OMIM603273.0019 Diseasep.ARG545PRORAPP-HODGKIN SYNDROME
OMIM603273.0001 Diseasep.ARG204TRPECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
OMIM603273.0011 Diseasep.ASN6HISADULT SYNDROME
OMIM603273.0015 Diseasep.ASP312GLYECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
OMIM603273.0003 Diseasep.CYS306ARGECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3
OMIM603273.0010 Diseasep.CYS522GLYANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM603273.0018 Diseasep.ILE510THRANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME, INCLUDED
OMIM603273.0009 Diseasep.LEU514PHEANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
OMIM603273.0005 Diseasep.LYS194GLUSPLIT-HAND/FOOT MALFORMATION 4
OMIM603273.0026 Diseasep.PRO127LEUADULT SYNDROME
OMIM603273.0020 Diseasep.VAL114METADULT SYNDROME



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