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Results for the Protein: Q15910
3334180

EZH2_HUMAN RecName: Full=Histone-lysine N-methyltransferase EZH2; AltName: Full=ENX-1; AltName: Full=Enhancer of zeste homolog 2; AltName: Full=Lysine N-methyltransferase 6

Known Diseases associated with this Protein:
  WEAVER SYNDROME
  WEAVER SYNDROME (WVS)
4
7
2
1
8
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Default View:

EZH2_WD-Binding - pfam11616
SANT - smart00717
SET - smart00317


Swiss-Prot Protein: Q15910
Identical to: NP_001190176
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EZH2_WD-Bindingpfam116167.9e-203968
SANTsmart007174.3e-17160250
SETsmart003174e-44613726

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067233Polymorphismp.ARG685HISN/A
dbSNPrs2302427 Polymorphismp.ASP185HISN/A
Swiss-ProtVAR_067597Diseasep.HIS689TYRWeaver syndrome (WVS)
Swiss-ProtVAR_067595Diseasep.PRO132SERWeaver syndrome (WVS)
Swiss-ProtVAR_067231Polymorphismp.TYR641ASNN/A
Swiss-ProtVAR_067228Polymorphismp.TYR641CYSN/A
Swiss-ProtVAR_067230Polymorphismp.TYR641HISN/A
Swiss-ProtVAR_067229Polymorphismp.TYR641PHEN/A
Swiss-ProtVAR_067232Polymorphismp.TYR641SERN/A
OMIM601573.0002 Diseasep.HIS689TYRWEAVER SYNDROME
OMIM601573.0003 Diseasep.PRO132SERWEAVER SYNDROME



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