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Results for the Protein: Q9UIF7
48428272

MUTYH_HUMAN RecName: Full=A/G-specific adenine DNA glycosylase; AltName: Full=MutY homolog; Short=hMYH

Known Diseases associated with this Protein:
  ENDOMETRIAL CANCER, INCLUDED
  FAMILIAL ADENOMATOUS POLYPOSIS 2
  FAMILIAL ADENOMATOUS POLYPOSIS 2 (FAP2)
  GASTRIC CANCER (GASC)
  GASTRIC CANCER, SOMATIC
16
7
6
3
14
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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


Swiss-Prot Protein: Q9UIF7
Identical to: NP_036354
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MutYCOG11943.4e-13083496
NthCOG01771.3e-14101311
ENDO3ccd000565.3e-51125283
DNA_Glycosylase_Ccd034312.7e-39365494
HhH-GPDpfam007304.2e-45129265
HHHpfam006330.00044193223
NUDIXpfam002932e-11366497
ENDO3csmart004781.7e-52133285
FESsmart005254.8e-07286306
EndIII_4Fe-2Spfam105760.00011287303

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048262Polymorphismp.ALA370VALN/A
Swiss-ProtVAR_064939Diseasep.ARG179CYSFamilial adenomatous polyposis 2 (FAP2)
dbSNPrs3219497 Polymorphismp.ARG531GLNN/A
Swiss-ProtVAR_026047Diseasep.ARG179HISFamilial adenomatous polyposis 2 (FAP2)
Swiss-ProtVAR_064940Diseasep.ARG182TRPFamilial adenomatous polyposis 2 (FAP2)
Swiss-ProtVAR_026048Diseasep.ARG238TRPFamilial adenomatous polyposis 2 (FAP2)
Swiss-ProtVAR_026050Diseasep.GLN411ARGGastric cancer (GASC)
dbSNPrs3219489 Polymorphismp.GLN335HISN/A
Swiss-ProtVAR_018875Diseasep.GLY393ASPFamilial adenomatous polyposis 2 (FAP2)
Swiss-ProtVAR_018876Polymorphismp.GLY500GLUN/A
Swiss-ProtVAR_018877Polymorphismp.LEU526METN/A
Swiss-ProtVAR_026049Diseasep.PRO402SERGastric cancer (GASC)
Swiss-ProtVAR_026051Polymorphismp.SER512PHEN/A
Swiss-ProtVAR_026046Diseasep.TRP128ARGFamilial adenomatous polyposis 2 (FAP2)
Swiss-ProtVAR_018873Diseasep.TYR176CYSFamilial adenomatous polyposis 2 (FAP2)
Swiss-ProtVAR_026045Diseasep.TYR125HISFamilial adenomatous polyposis 2 (FAP2)
dbSNPrs3219484 Polymorphismp.VAL22METN/A
OMIM604933.0007 Diseasep.GLN397ARGGASTRIC CANCER, SOMATIC
OMIM604933.0005 Diseasep.GLU463TERFAMILIAL ADENOMATOUS POLYPOSIS 2
OMIM604933.0002 Diseasep.GLY379ASPFAMILIAL ADENOMATOUS POLYPOSIS 2||ENDOMETRIAL CANCER, INCLUDED
OMIM604933.0006 Diseasep.PRO388SERGASTRIC CANCER, SOMATIC
OMIM604933.0001 Diseasep.TYR162CYSFAMILIAL ADENOMATOUS POLYPOSIS 2||ENDOMETRIAL CANCER, INCLUDED
OMIM604933.0004 Diseasep.TYR87TERFAMILIAL ADENOMATOUS POLYPOSIS 2



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