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Results for the Protein: P23025
139816
XPA

XPA_HUMAN RecName: Full=DNA repair protein complementing XP-A cells; AltName: Full=Xeroderma pigmentosum group A-complementing protein

Known Diseases associated with this Protein:
  XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP A (XP-A)
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
9
5
4
0
10
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Swiss-Prot Protein: P23025
Identical to: NP_000371
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014799Polymorphismp.ARG228GLNN/A
Swiss-ProtVAR_007729Diseasep.ARG130LYSXeroderma pigmentosum complementation group A (XP-A)
Swiss-ProtVAR_007728Diseasep.CYS108PHEXeroderma pigmentosum complementation group A (XP-A)
Swiss-ProtVAR_007730Diseasep.GLN185HISXeroderma pigmentosum complementation group A (XP-A)
Swiss-ProtVAR_007731Diseasep.HIS244ARGXeroderma pigmentosum complementation group A (XP-A)
Swiss-ProtVAR_020324Polymorphismp.LEU252VALN/A
Swiss-ProtVAR_061987Polymorphismp.MET256VALN/A
Swiss-ProtVAR_007727Diseasep.PRO94LEUXeroderma pigmentosum complementation group A (XP-A)
Swiss-ProtVAR_037907Polymorphismp.VAL97ILEN/A
Swiss-ProtVAR_029325Polymorphismp.VAL234LEUN/A
OMIM611153.0005 Diseasep.ARG207TERXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
OMIM611153.0004 Diseasep.ARG228TERXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
OMIM611153.0002 Diseasep.CYS108PHEXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
OMIM611153.0006 Diseasep.TYR116TERXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A



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