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Results for the Protein: O14647
119370320

CHD2_HUMAN RecName: Full=Chromodomain-helicase-DNA-binding protein 2; Short=CHD-2; AltName: Full=ATP-dependent helicase CHD2

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
  EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET (EEOC)
6
1
4
1
2
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Default View:

HepA - COG0553
CHROMO - smart00298
Chromo - pfam00385
CHROMO - cd00024
SSL2 - COG1061
DEXDc - smart00487
ResIII - pfam04851
SNF2_N - pfam00176
DEXDc - cd00046
HDA2-3 - pfam11496
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271


Swiss-Prot Protein: O14647
Identical to: NP_001262
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHROMOcd000247.7e-17282344
CHROMOcd000245e-16375447
SSL2COG10617.2e-06438999
DEXDccd000461.1e-23503648
HELICccd000798.5e-30781913
Chromopfam003852.9e-09261344
Chromopfam003853.8e-26378447
ResIIIpfam048511.9e-05481652
SNF2_Npfam001767.6e-136487766
Helicase_Cpfam002717.5e-26825905
CHROMOsmart002985.4e-28260346
CHROMOsmart002981.1e-17376449
DEXDcsmart004871.1e-38476677
HDA2-3pfam114967.5e-05719975
HELICcsmart004905.8e-26821905

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs56227200 Polymorphismp.GLY1574ALAN/A
Swiss-ProtVAR_070210Diseasep.LEU823PROEpileptic encephalopathy, childhood-onset (EEOC)
Swiss-ProtVAR_070209Diseasep.TRP548ARGEpileptic encephalopathy, childhood-onset (EEOC)
OMIM602119.0003 Diseasep.ARG121TEREPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
OMIM602119.0009 Diseasep.ARG446TEREPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
OMIM602119.0006 Diseasep.TRP548ARGEPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
OMIM602119.0007 Diseasep.TRP1657TEREPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET



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