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Results for the Protein: Q13216
3121917

ERCC8_HUMAN RecName: Full=DNA excision repair protein ERCC-8; AltName: Full=Cockayne syndrome WD repeat protein CSA

Known Diseases associated with this Protein:
  COCKAYNE SYNDROME A
  COCKAYNE SYNDROME A (CSA)
  UV-SENSITIVE SYNDROME 2
  UV-SENSITIVE SYNDROME 2 (UVSS2)
12
2
5
0
9
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WD40 - smart00320


Swiss-Prot Protein: Q13216
Identical to: NP_000073
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40smart003200.0004983128
WD40smart003203.3e-13175215
WD40smart003201.9e-05234273

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025381Diseasep.ALA205PROCockayne syndrome A (CSA)
Swiss-ProtVAR_063507Diseasep.ALA160THRCockayne syndrome A (CSA)
Swiss-ProtVAR_025380Diseasep.ALA160VALCockayne syndrome A (CSA)
Swiss-ProtVAR_063510Diseasep.ASP266GLYCockayne syndrome A (CSA)
Swiss-ProtVAR_063509Diseasep.LEU202SERCockayne syndrome A (CSA)
Swiss-ProtVAR_053392Polymorphismp.SER150CYSN/A
Swiss-ProtVAR_063508Diseasep.TRP194CYSCockayne syndrome A (CSA)
Swiss-ProtVAR_068177Diseasep.TRP361CYSUV-sensitive syndrome 2 (UVSS2)
Swiss-ProtVAR_016319Polymorphismp.TYR200CYSN/A
OMIM609412.0005 Diseasep.ALA205PROCOCKAYNE SYNDROME A
OMIM609412.0004 Diseasep.ALA160VALCOCKAYNE SYNDROME A
OMIM609412.0003 Diseasep.GLU13TERCOCKAYNE SYNDROME A
OMIM609412.0006 Diseasep.TRP361CYSUV-SENSITIVE SYNDROME 2
OMIM609412.0002 Diseasep.TYR322TERCOCKAYNE SYNDROME A



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