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Results for the Protein: NP_001041636
115298648

A/G-specific adenine DNA glycosylase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ENDOMETRIAL CANCER, INCLUDED
  FAMILIAL ADENOMATOUS POLYPOSIS 2
  GASTRIC CANCER, SOMATIC
6
3
6
3
0
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Default View:

MutY - COG1194
Nth - COG0177
ENDO3c - cd00056
HhH-GPD - pfam00730
ENDO3c - smart00478
HHH - pfam00633
FES - smart00525
EndIII_4Fe-2S - pfam10576
DNA_Glycosylase_C - cd03431
NUDIX - pfam00293




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NthCOG01771.3e-1490300
ENDO3ccd000565.3e-51114272
DNA_Glycosylase_Ccd034312.7e-39354483
HhH-GPDpfam007304.2e-45118254
HHHpfam006330.00044182212
NUDIXpfam002932e-11355486
ENDO3csmart004781.7e-52122274
FESsmart005254.8e-07275295
EndIII_4Fe-2Spfam105760.00011276292

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3219497 Polymorphismp.ARG520GLNN/A
dbSNPrs3219489 Polymorphismp.GLN324HISN/A
dbSNPrs3219484 Polymorphismp.VAL22METN/A
OMIM604933.0007 Diseasep.GLN386ARGGASTRIC CANCER, SOMATIC
OMIM604933.0005 Diseasep.GLU452TERFAMILIAL ADENOMATOUS POLYPOSIS 2
OMIM604933.0002 Diseasep.GLY368ASPFAMILIAL ADENOMATOUS POLYPOSIS 2||ENDOMETRIAL CANCER, INCLUDED
OMIM604933.0006 Diseasep.PRO377SERGASTRIC CANCER, SOMATIC
OMIM604933.0001 Diseasep.TYR151CYSFAMILIAL ADENOMATOUS POLYPOSIS 2||ENDOMETRIAL CANCER, INCLUDED
OMIM604933.0004 Diseasep.TYR76TERFAMILIAL ADENOMATOUS POLYPOSIS 2



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