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Results for the Protein: Q06330
338817983

SUH_HUMAN RecName: Full=Recombining binding protein suppressor of hairless; AltName: Full=CBF-1; AltName: Full=J kappa-recombination signal-binding protein; AltName: Full=RBP-J kappa; Short=RBP-J; Short=RBP-JK; AltName: Full=Renal carcinoma antigen NY-REN-30

Known Diseases associated with this Protein:
  ADAMS-OLIVER SYNDROME 3
  ADAMS-OLIVER SYNDROME 3 (AOS3)
4
8
2
1
9
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Default View:

LAG1-DNAbind - pfam09271
BTD - pfam09270
IPT_RBP-Jkappa - cd01176
IPT_TF - cd00602
IPT - cd00102
TIG - pfam01833


Swiss-Prot Protein: Q06330
Identical to: NP_005340
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IPT_TFcd006021.4e-41352446
IPTcd001021.7e-09355446
TIGpfam018331.1e-05355444
LAG1-DNAbindpfam092711.7e-7947178
BTDpfam092705.3e-103179328

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_028998Polymorphismp.ALA456VALN/A
Swiss-ProtVAR_028996Polymorphismp.ARG419GLNN/A
Swiss-ProtVAR_028995Polymorphismp.ASP334HISN/A
Swiss-ProtVAR_068929Diseasep.GLU63GLYAdams-Oliver syndrome 3 (AOS3)
Swiss-ProtVAR_057244Polymorphismp.ILE408VALN/A
Swiss-ProtVAR_068930Diseasep.LYS169GLUAdams-Oliver syndrome 3 (AOS3)
Swiss-ProtVAR_028994Polymorphismp.LYS291GLUN/A
Swiss-ProtVAR_057243Polymorphismp.MET296LYSN/A
Swiss-ProtVAR_028997Polymorphismp.PRO425SERN/A
dbSNPrs75014045 Polymorphismp.THR197ARGN/A
OMIM147183.0001 Diseasep.GLU63GLYADAMS-OLIVER SYNDROME 3
OMIM147183.0002 Diseasep.LYS169GLUADAMS-OLIVER SYNDROME 3



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