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Results for the Protein: Q06710
215273928

PAX8_HUMAN RecName: Full=Paired box protein Pax-8

Known Diseases associated with this Protein:
  HYPOTHYROIDISM, CONGENITAL, NON-GOITROUS, 2 (CHNG2)
  HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
11
1
7
0
5
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Default View:

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


Swiss-Prot Protein: Q06710
Identical to: NP_003457
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PAXcd001317.5e-989136
PAXpfam002925e-889133
PAXsmart003511.5e-949133
Pax2_Cpfam124035.1e-71334449

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012769Diseasep.ARG31HISHypothyroidism, congenital, non-goitrous, 2 (CHNG2)
Swiss-ProtVAR_012771Diseasep.CYS57TYRHypothyroidism, congenital, non-goitrous, 2 (CHNG2)
Swiss-ProtVAR_012770Diseasep.GLN40PROHypothyroidism, congenital, non-goitrous, 2 (CHNG2)
Swiss-ProtVAR_012772Diseasep.LEU62ARGHypothyroidism, congenital, non-goitrous, 2 (CHNG2)
Swiss-ProtVAR_012773Polymorphismp.PHE329LEUN/A
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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