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Results for the Protein: Q92889
229463004

XPF_HUMAN RecName: Full=DNA repair endonuclease XPF; AltName: Full=DNA excision repair protein ERCC-4; AltName: Full=DNA repair protein complementing XP-F cells; AltName: Full=Xeroderma pigmentosum group F-complementing protein

Known Diseases associated with this Protein:
  FANCONI ANEMIA COMPLEMENTATION GROUP Q (FANCQ)
  FANCONI ANEMIA, COMPLEMENTATION GROUP Q
  XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP F (XP-F)
  XERODERMA PIGMENTOSUM TYPE F/COCKAYNE SYNDROME (XPF/CS)
  XERODERMA PIGMENTOSUM, TYPE F
  XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
  XFE PROGEROID SYNDROME
  XFE PROGEROID SYNDROME (XFEPS)
20
14
6
2
26
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Default View:

MUS81 - COG1948
ERCC4 - pfam02732


Swiss-Prot Protein: Q92889
Identical to: NP_005227
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MUS81COG19483.4e-50649916
ERCC4pfam027321.5e-30683763

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057479Polymorphismp.ALA860ASPN/A
Swiss-ProtVAR_014769Polymorphismp.ALA168VALN/A
dbSNPrs1800067 Polymorphismp.ARG415GLNN/A
Swiss-ProtVAR_008202Diseasep.ARG490GLNXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_034802Diseasep.ARG153PROXFE progeroid syndrome (XFEPS)
Swiss-ProtVAR_070089Diseasep.ARG689SERFanconi anemia complementation group Q (FANCQ)
Swiss-ProtVAR_013397Polymorphismp.ARG576THRN/A
Swiss-ProtVAR_008201Diseasep.ARG454TRPXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_070088Diseasep.ARG589TRPXeroderma pigmentosum type F/Cockayne syndrome (XPF/CS)
Swiss-ProtVAR_005850Diseasep.ARG799TRPXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_070087Diseasep.CYS236ARGXeroderma pigmentosum type F/Cockayne syndrome (XPF/CS)
Swiss-ProtVAR_013408Polymorphismp.GLU875GLYN/A
Swiss-ProtVAR_008203Diseasep.GLU502LYSXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_008204Diseasep.GLY513ARGXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_005849Polymorphismp.GLY703ASPN/A
Swiss-ProtVAR_014772Polymorphismp.GLY912GLUN/A
Swiss-ProtVAR_008200Diseasep.ILE225METXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_008205Diseasep.ILE529THRXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_014771Polymorphismp.ILE706THRN/A
Swiss-ProtVAR_013399Polymorphismp.ILE717THRN/A
Swiss-ProtVAR_019201Polymorphismp.ILE873VALN/A
Swiss-ProtVAR_070086Diseasep.LEU230PROFanconi anemia complementation group Q (FANCQ)
Swiss-ProtVAR_013398Diseasep.LEU608PROXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_013395Polymorphismp.PRO379SERN/A
Swiss-ProtVAR_057478Polymorphismp.SER768PHEN/A
dbSNPrs2020955 Polymorphismp.SER662PRON/A
Swiss-ProtVAR_008206Diseasep.THR567ALAXeroderma pigmentosum complementation group F (XP-F)
Swiss-ProtVAR_057477Polymorphismp.VAL33LEUN/A
OMIM133520.0003 Diseasep.ARG153PROXFE PROGEROID SYNDROME
OMIM133520.0005 Diseasep.ARG689SERFANCONI ANEMIA, COMPLEMENTATION GROUP Q
OMIM133520.0010 Diseasep.ARG589TRPXERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM133520.0002 Diseasep.ARG788TRPXERODERMA PIGMENTOSUM, TYPE F
OMIM133520.0008 Diseasep.CYS236ARGXERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
OMIM133520.0007 Diseasep.LEU230PROFANCONI ANEMIA, COMPLEMENTATION GROUP Q



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