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Results for the Protein: NP_700476
24234711

pituitary homeobox 2 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  AXENFELD-RIEGER SYNDROME, TYPE 1
  IRIDOGONIODYSGENESIS, TYPE 2
  RING DERMOID OF CORNEA
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Default View:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086
OAR - pfam03826


RefSeq Protein: NP_700476
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5576COG55760.000261131
Homeoboxpfam000462.6e-294096
OARpfam038268e-08228248
HOXsmart003892.7e-264095

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM601542.0012 Diseasep.ARG1HISRING DERMOID OF CORNEA
OMIM601542.0008 Diseasep.ARG17HISIRIDOGONIODYSGENESIS, TYPE 2
OMIM601542.0005 Diseasep.ARG38PROAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0007 Diseasep.ARG1TRPIRIDOGONIODYSGENESIS, TYPE 2
OMIM601542.0001 Diseasep.LEU1GLNAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0013 Diseasep.LYS35GLUAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0003 Diseasep.THR1PROAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0006 Diseasep.TRP80TERAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0010 Diseasep.VAL1LEUAXENFELD-RIEGER SYNDROME, TYPE 1



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