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Results for the Protein: NP_694543
23510384

histone-lysine N-methyltransferase EZH2 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  WEAVER SYNDROME
2
1
2
1
0
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Default View:

EZH2_WD-Binding - pfam11616
SANT - smart00717
SET - smart00317
SET - pfam00856


RefSeq Protein: NP_694543
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SETpfam008561.9e-33584688
EZH2_WD-Bindingpfam116167.9e-203968
SANTsmart007174.3e-17121211
SETsmart003174e-44574687

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2302427 Polymorphismp.ASP146HISN/A
OMIM601573.0002 Diseasep.HIS650TYRWEAVER SYNDROME
OMIM601573.0003 Diseasep.PRO93SERWEAVER SYNDROME



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