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Results for the Protein: Q92466
12230033

DDB2_HUMAN RecName: Full=DNA damage-binding protein 2; AltName: Full=DDB p48 subunit; Short=DDBb; AltName: Full=Damage-specific DNA-binding protein 2; AltName: Full=UV-damaged DNA-binding protein 2; Short=UV-DDB 2

Known Diseases associated with this Protein:
  XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E (XP-E)
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
6
2
4
0
4
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Default View:

WD40 - smart00320


Swiss-Prot Protein: Q92466
Identical to: NP_000098
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40smart003201.1e-08231271
WD40smart003200.00025278316

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016338Polymorphismp.ALA293THRN/A
Swiss-ProtVAR_010142Diseasep.ARG273HISXeroderma pigmentosum complementation group E (XP-E)
Swiss-ProtVAR_010141Diseasep.LYS244GLUXeroderma pigmentosum complementation group E (XP-E)
Swiss-ProtVAR_016337Polymorphismp.MET215THRN/A
OMIM600811.0002 Diseasep.ARG273HISXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
OMIM600811.0003 Diseasep.ARG313TERXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
OMIM600811.0004 Diseasep.ASP307TYRXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
OMIM600811.0001 Diseasep.LYS244GLUXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM



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