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Results for the Protein: Q9NYJ8
74753070

TAB2_HUMAN RecName: Full=TGF-beta-activated kinase 1 and MAP3K7-binding protein 2; AltName: Full=Mitogen-activated protein kinase kinase kinase 7-interacting protein 2; AltName: Full=TAK1-binding protein 2; Short=TAB-2; AltName: Full=TGF-beta-activated kinase 1-binding protein 2

Known Diseases associated with this Protein:
  CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (CHTD2)
  CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2
4
0
2
0
2
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Default View:

CUE - smart00546
CUE - pfam02845
ZnF_RBZ - smart00547


Swiss-Prot Protein: Q9NYJ8
Identical to: NP_055908
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CUEpfam028454.6e-08950
CUEsmart005463.2e-12850
ZnF_RBZsmart005477.2e-09666690

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063775Diseasep.GLN230LYSCongenital heart defects, multiple types, 2 (CHTD2)
Swiss-ProtVAR_063774Diseasep.PRO208SERCongenital heart defects, multiple types, 2 (CHTD2)
OMIM605101.0002 Diseasep.GLN230LYSCONGENITAL HEART DISEASE, MULTIPLE TYPES, 2
OMIM605101.0001 Diseasep.PRO208SERCONGENITAL HEART DISEASE, MULTIPLE TYPES, 2



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