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Results for the Protein: Q99697
6174907

PITX2_HUMAN RecName: Full=Pituitary homeobox 2; AltName: Full=ALL1-responsive protein ARP1; AltName: Full=Homeobox protein PITX2; AltName: Full=Paired-like homeodomain transcription factor 2; AltName: Full=RIEG bicoid-related homeobox transcription factor; AltName: Full=Solurshin

Known Diseases associated with this Protein:
  AXENFELD-RIEGER SYNDROME 1 (RIEG1)
  AXENFELD-RIEGER SYNDROME, TYPE 1
  IRIDOGONIODYSGENESIS 2 (IRID2)
  IRIDOGONIODYSGENESIS, TYPE 2
  RING DERMOID OF CORNEA
  RING DERMOID OF CORNEA (RDC)
22
0
9
0
13
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Default View:

HOX - smart00389




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HOXsmart003892.7e-2686141

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058738Diseasep.ARG136CYSAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_035027Diseasep.ARG108HISRing dermoid of cornea (RDC)
Swiss-ProtVAR_003765Diseasep.ARG115HISIridogoniodysgenesis 2 (IRID2)
Swiss-ProtVAR_003766Diseasep.ARG137PROAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_003762Diseasep.ARG130TRPIridogoniodysgenesis 2 (IRID2)
Swiss-ProtVAR_058740Diseasep.ASN154THRAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_003763Diseasep.LEU100GLNAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_058739Diseasep.LEU151VALAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_058737Diseasep.LYS134GLUAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_058736Diseasep.PRO110ARGAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_058735Diseasep.PRO110LEUAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_003764Diseasep.THR114PROAxenfeld-Rieger syndrome 1 (RIEG1)
Swiss-ProtVAR_035029Diseasep.VAL129LEUAxenfeld-Rieger syndrome 1 (RIEG1)
OMIM601542.0012 Diseasep.ARG1HISRING DERMOID OF CORNEA
OMIM601542.0008 Diseasep.ARG63HISIRIDOGONIODYSGENESIS, TYPE 2
OMIM601542.0005 Diseasep.ARG84PROAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0007 Diseasep.ARG1TRPIRIDOGONIODYSGENESIS, TYPE 2
OMIM601542.0001 Diseasep.LEU1GLNAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0013 Diseasep.LYS81GLUAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0003 Diseasep.THR1PROAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0006 Diseasep.TRP126TERAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0010 Diseasep.VAL1LEUAXENFELD-RIEGER SYNDROME, TYPE 1



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