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Results for the Protein: NP_000269
34878701

paired box protein Pax-2 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  PAPILLORENAL SYNDROME
  PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
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Default View:

PAX - smart00351
PAX - pfam00292
PAX - cd00131
Pax2_C - pfam12403


RefSeq Protein: NP_000269
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PAXcd001314.6e-10116143
PAXpfam002922.7e-9116140
PAXsmart003511.4e-9716140
Pax2_Cpfam124036.5e-78278392

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM167409.0012 Diseasep.ARG71THRPAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
OMIM167409.0006 Diseasep.GLY76SERPAPILLORENAL SYNDROME



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