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Results for the Protein: NP_001036037
110611184

chromodomain-helicase-DNA-binding protein 2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
2
0
2
0
0
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Default View:

CHROMO - smart00298
Chromo - pfam00385
CHROMO - cd00024




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHROMOcd000245e-16375447
Chromopfam003852.9e-09261344
Chromopfam003853.8e-26378447
CHROMOsmart002985.4e-28260346
CHROMOsmart002981.1e-17376449

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM602119.0003 Diseasep.ARG121TEREPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
OMIM602119.0009 Diseasep.ARG446TEREPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET



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