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Results for the Protein: NP_000316
21361183

pituitary homeobox 2 isoform c [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_000316
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5576COG55762.2e-0740184
Homeoboxpfam000462.6e-2993149
OARpfam038268e-08281301
HOXsmart003892.7e-2693148

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM601542.0012 Diseasep.ARG62HISRING DERMOID OF CORNEA
OMIM601542.0008 Diseasep.ARG70HISIRIDOGONIODYSGENESIS, TYPE 2
OMIM601542.0005 Diseasep.ARG91PROAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0007 Diseasep.ARG46TRPIRIDOGONIODYSGENESIS, TYPE 2
OMIM601542.0001 Diseasep.LEU54GLNAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0013 Diseasep.LYS88GLUAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0003 Diseasep.THR68PROAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0006 Diseasep.TRP133TERAXENFELD-RIEGER SYNDROME, TYPE 1
OMIM601542.0010 Diseasep.VAL45LEUAXENFELD-RIEGER SYNDROME, TYPE 1



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