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Results for the Protein: NP_001159890
262073088

histone deacetylase 8 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  CORNELIA DE LANGE SYNDROME 5
5
0
5
0
0
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Default View:

Hist_deacetyl - pfam00850
AcuC - COG0123




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Hist_deacetylpfam008503.7e-272232

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300269.0002 Diseasep.ARG73TERCORNELIA DE LANGE SYNDROME 5
OMIM300269.0005 Diseasep.GLY229ARGCORNELIA DE LANGE SYNDROME 5
OMIM300269.0006 Diseasep.HIS243ARGCORNELIA DE LANGE SYNDROME 5
OMIM300269.0003 Diseasep.HIS89ARGCORNELIA DE LANGE SYNDROME 5
OMIM300269.0004 Diseasep.THR220METCORNELIA DE LANGE SYNDROME 5



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