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Results for the Protein: Q99684
33860154

GFI1_HUMAN RecName: Full=Zinc finger protein Gfi-1; AltName: Full=Growth factor independent protein 1; AltName: Full=Zinc finger protein 163

Known Diseases associated with this Protein:
  DOMINANT NONIMMUNE CHRONIC IDIOPATHIC NEUTROPENIA OF ADULTS (NI-CINA)
  NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
  NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT (SCN2)
  NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
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1
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3
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Default View:

ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000968.2e-05284306
zf-C2H2pfam000966.2e-07312334
zf-C2H2pfam000960.00029340362
zf-C2H2pfam000968e-07368390
zf-C2H2pfam000960.00019396419
ZnF_C2H2smart003552.2e-05255278
ZnF_C2H2smart003550.0001284306
ZnF_C2H2smart003550.0001312334
ZnF_C2H2smart003550.00014340362
ZnF_C2H2smart003555e-05368390
ZnF_C2H2smart003550.00059396419

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016212Diseasep.ASN382SERNeutropenia, severe congenital 2, autosomal dominant (SCN2)
Swiss-ProtVAR_016213Diseasep.LYS403ARGDominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA)
Swiss-ProtVAR_052722Polymorphismp.SER36ASNN/A
OMIM600871.0001 Diseasep.ASN382SERNEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
OMIM600871.0002 Diseasep.LYS403ARGNEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS



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