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Results for the Protein: NP_000114
51988900

DNA repair protein complementing XP-G cells [Homo sapiens]

Known Diseases associated with this Protein:
  XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
10
7
10
7
0
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Default View:

XPGN - smart00485
PIN_FEN1_EXO1-like - cd00128
XPG_N - pfam00752
Exo - COG0258
XPG_I - pfam00867
XPGI - smart00484
H3TH_StructSpec-5'-n - cd00080
HhH2 - smart00279


RefSeq Protein: NP_000114
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ExoCOG02584.1e-056541012
H3TH_StructSpec-5'-ncd000802.9e-15842919
XPG_Npfam007522.7e-54298
XPG_Ipfam008679.5e-34777861
XPGNsmart004854.2e-50198
XPGIsmart004842.8e-33777846
HhH2smart002791.8e-12848881

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2227870 Polymorphismp.ALA627GLUN/A
dbSNPrs17655 Polymorphismp.ASP1104HISN/A
dbSNPrs2227869 Polymorphismp.CYS529SERN/A
dbSNPrs4150313 Polymorphismp.GLN256ARGN/A
dbSNPrs4150388 Polymorphismp.GLY1080GLUN/A
dbSNPrs1047769 Polymorphismp.MET254VALN/A
dbSNPrs4987063 Polymorphismp.VAL145ILEN/A
OMIM133530.0014 Diseasep.ALA28ASPXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
OMIM133530.0012 Diseasep.ALA874THRXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
OMIM133530.0002 Diseasep.ALA792VALXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
OMIM133530.0005 Diseasep.ARG263TERXERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
OMIM133530.0013 Diseasep.GLN136TERXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
OMIM133530.0006 Diseasep.GLN176TERXERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
OMIM133530.0001 Diseasep.GLU960TERXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
OMIM133530.0008 Diseasep.LEU858PROXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
OMIM133530.0007 Diseasep.PRO72HISXERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME
OMIM133530.0015 Diseasep.TRP968CYSXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G



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