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Results for the Protein: O14593
6093962

RFXK_HUMAN RecName: Full=DNA-binding protein RFXANK; AltName: Full=Ankyrin repeat family A protein 1; AltName: Full=Regulatory factor X subunit B; Short=RFX-B; AltName: Full=Regulatory factor X-associated ankyrin-containing protein

Known Diseases associated with this Protein:
  BARE LYMPHOCYTE SYNDROME 2 (BLS2)
  BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B
2
2
1
2
1
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Default View:

Arp - COG0666
ANK - cd00204
Ank - pfam00023
ANK - smart00248


Swiss-Prot Protein: O14593
Identical to: NP_003712
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANKcd002046.3e-32118243
Ankpfam000234.3e-06123155
Ankpfam000235.9e-06189221
ANKsmart002483.4e-05189218

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1802498 Polymorphismp.GLN251GLUN/A
dbSNPrs34282046 Polymorphismp.GLU48ASPN/A
Swiss-ProtVAR_009941Diseasep.LEU195PROBare lymphocyte syndrome 2 (BLS2)
OMIM603200.0004 Diseasep.ASP121VALBARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B



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