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Results for the Protein: Q92610
209572705

ZN592_HUMAN RecName: Full=Zinc finger protein 592

Known Diseases associated with this Protein:
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, 5 (SCAR5)
2
2
1
2
1
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Default View:

ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096


Swiss-Prot Protein: Q92610
Identical to: NP_055445
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000960.0007892915
zf-C2H2pfam000960.0002710131036
zf-C2H2pfam000960.0003110431069
ZnF_C2H2smart003550.00011892915
ZnF_C2H2smart003550.000699831006
ZnF_C2H2smart003551.9e-0510131036

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064583Diseasep.GLY1046ARGSpinocerebellar ataxia, autosomal recessive, 5 (SCAR5)
dbSNPrs8182086 Polymorphismp.SER926ASNN/A
dbSNPrs61736261 Polymorphismp.SER298GLYN/A
OMIM613624.0001 Diseasep.GLY1046ARGSPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5



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