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Results for the Protein: Q96MR6
300669699

WDR65_HUMAN RecName: Full=WD repeat-containing protein 65

Known Diseases associated with this Protein:
  VAN DER WOUDE SYNDROME 2 (VWS2)
1
3
0
0
4
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Default View:

COG2319 - COG2319
WD40 - cd00200
WD40 - smart00320
WD40 - pfam00400


Swiss-Prot Protein: Q96MR6
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40cd002004.4e-14381666
COG2319COG23195.1e-18206699
WD40pfam004008.4e-07502540
WD40smart003201.4e-06501540
WD40smart003200.00039627666

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026850Polymorphismp.ALA183SERN/A
Swiss-ProtVAR_026851Polymorphismp.ASN241ASPN/A
Swiss-ProtVAR_066494Diseasep.ASP523TYRVan der Woude syndrome 2 (VWS2)
Swiss-ProtVAR_026852Polymorphismp.CYS345SERN/A



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