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Results for the Protein: Q9BY41
29839394

HDAC8_HUMAN RecName: Full=Histone deacetylase 8; Short=HD8

Known Diseases associated with this Protein:
  CORNELIA DE LANGE SYNDROME 5
  CORNELIA DE LANGE SYNDROME 5 (CDLS5)
9
0
5
0
4
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Default View:

AcuC - COG0123
Hist_deacetyl - pfam00850


Swiss-Prot Protein: Q9BY41
Identical to: NP_060956
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Hist_deacetylpfam008501.9e-9821323

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069142Diseasep.GLY320ARGCornelia de Lange syndrome 5 (CDLS5)
Swiss-ProtVAR_069140Diseasep.HIS180ARGCornelia de Lange syndrome 5 (CDLS5)
Swiss-ProtVAR_069143Diseasep.HIS334ARGCornelia de Lange syndrome 5 (CDLS5)
Swiss-ProtVAR_069141Diseasep.THR311METCornelia de Lange syndrome 5 (CDLS5)
OMIM300269.0002 Diseasep.ARG164TERCORNELIA DE LANGE SYNDROME 5
OMIM300269.0005 Diseasep.GLY320ARGCORNELIA DE LANGE SYNDROME 5
OMIM300269.0003 Diseasep.HIS180ARGCORNELIA DE LANGE SYNDROME 5
OMIM300269.0006 Diseasep.HIS334ARGCORNELIA DE LANGE SYNDROME 5
OMIM300269.0004 Diseasep.THR311METCORNELIA DE LANGE SYNDROME 5



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