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Results for the Protein: NP_039247
7524365

paired box protein Pax-8 isoform PAX8D [Homo sapiens]

Known Diseases associated with this Protein:
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
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Default View:

PAX - smart00351
PAX - pfam00292
PAX - cd00131


RefSeq Protein: NP_039247
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PAXcd001317.5e-989136
PAXpfam002925e-889133
PAXsmart003511.5e-949133

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM167415.0003 Diseasep.ARG31HISHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
OMIM167415.0002 Diseasep.ARG108TERHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
OMIM167415.0005 Diseasep.CYS57TYRHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
OMIM167415.0007 Diseasep.GLN40PROHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
OMIM167415.0004 Diseasep.LEU62ARGHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
OMIM167415.0006 Diseasep.SER54GLYHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
OMIM167415.0008 Diseasep.SER48PHEHYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2



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