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Results for the Protein: O95409
20178334

ZIC2_HUMAN RecName: Full=Zinc finger protein ZIC 2; AltName: Full=Zinc finger protein of the cerebellum 2

Known Diseases associated with this Protein:
  HOLOPROSENCEPHALY 5 (HPE5)
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ZnF_C2H2 - smart00355


Swiss-Prot Protein: O95409
Identical to: NP_009060
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_C2H2smart003552.1e-05363387
ZnF_C2H2smart003551.3e-05393415

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058601Diseasep.ARG325LEUHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058605Diseasep.ARG373PROHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058602Diseasep.ARG325SERHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058609Diseasep.ARG409TRPHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058593Diseasep.ASP128ASNHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058592Diseasep.ASP37ASNHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_023794Diseasep.ASP152PHEHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058604Diseasep.CYS335PHEHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_023793Diseasep.GLN36PROHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058608Diseasep.HIS404ARGHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058596Diseasep.HIS286GLNHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058610Diseasep.HIS415GLNHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058595Diseasep.HIS286LEUHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058597Diseasep.HIS286TYRHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058598Diseasep.HIS291TYRHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058603Diseasep.HIS327TYRHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058600Diseasep.PHE314CYSHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058594Diseasep.SER272ASNHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058607Diseasep.THR403LYSHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058599Diseasep.TRP304ARGHoloprosencephaly 5 (HPE5)
Swiss-ProtVAR_058606Diseasep.TYR402ASNHoloprosencephaly 5 (HPE5)



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