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Results for the Protein: Q02556
6016308

IRF8_HUMAN RecName: Full=Interferon regulatory factor 8; Short=IRF-8; AltName: Full=Interferon consensus sequence-binding protein; Short=H-ICSBP; Short=ICSBP

Known Diseases associated with this Protein:
  CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL
  DOMINANT
  IRF8 DEFICIENCY, AUTOSOMAL DOMINANT (IRF8DD)
  IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE (IRF8DR)
  MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
4
2
2
0
4
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Default View:

IRF - smart00348
IRF-3 - pfam10401


Swiss-Prot Protein: Q02556
Identical to: NP_002154
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IRFsmart003481.5e-649115
IRF-3pfam104012.2e-86202382

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036491Polymorphismp.ALA197THRN/A
Swiss-ProtVAR_036490Polymorphismp.ARG81LYSN/A
Swiss-ProtVAR_070085Diseasep.LYS108GLUIRF8 deficiency, autosomal recessive (IRF8DR)
Swiss-ProtVAR_070084Diseasep.THR80ALAIRF8 deficiency, autosomal dominant (IRF8DD)
OMIM601565.0001 Diseasep.LYS108GLUMONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM601565.0002 Diseasep.THR80ALACD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL||DOMINANT



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