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Results for the Protein: P13051
37999897
UNG

UNG_HUMAN RecName: Full=Uracil-DNA glycosylase; Short=UDG

Known Diseases associated with this Protein:
  IMMUNODEFICIENCY WITH HYPER-IGM 5 (HIGM5)
  IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 5
2
1
1
0
2
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Default View:

Ung - COG0692
UDG - pfam03167


Swiss-Prot Protein: P13051
Identical to: NP_550433
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
UngCOG06928.6e-14292313
UDGpfam031674.4e-38139301

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052697Polymorphismp.GLN4ARGN/A
Swiss-ProtVAR_017094Diseasep.PHE251SERImmunodeficiency with hyper-IgM 5 (HIGM5)
OMIM191525.0003 Diseasep.PHE251SERIMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5



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