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Results for the Protein: P11413
116242483

G6PD_HUMAN RecName: Full=Glucose-6-phosphate 1-dehydrogenase; Short=G6PD

Known Diseases associated with this Protein:
  ANEMIA, NON-SPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (NSHA)
  ANEMIA, NONSEPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
  ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
  G6PD A+
  G6PD A-
  G6PD AGRIGENTO;;
  G6PD ALHAMBRA
  G6PD ANAHEIM;;
  G6PD ANANT;;
  G6PD ANDALUS
  G6PD ASAHI
  G6PD AURES
  G6PD AVEIRO
  G6PD BEVERLY HILLS
  G6PD CAGLIARI
  G6PD CANTON
  G6PD CHATHAM
  G6PD COIMBRA
  G6PD COSENZA
  G6PD DHON;;
  G6PD GAOHE
  G6PD GASTONIA
  G6PD GIFU;;
  G6PD GUADALAJARA
  G6PD HARILAOU
  G6PD IERAPETRA
  G6PD ILESHA
  G6PD IOWA
  G6PD IOWA CITY;;
  G6PD JAMMU
  G6PD JAPAN
  G6PD KAIPING
  G6PD KALYAN
  G6PD KERALA-KALYAN
  G6PD KERALA;;
  G6PD LOMA LINDA
  G6PD MAHIDOL
  G6PD MAHIDOL-LIKE
  G6PD MALAGA
  G6PD MARION;;
  G6PD MEDITERRANEAN
  G6PD METAPONTO
  G6PD MEXICO CITY
  G6PD MINNESOTA;;
  G6PD MODENA
  G6PD MONTALBANO
  G6PD NAMORU
  G6PD NANKANG
  G6PD NASHVILLE
  G6PD NEAPOLIS
  G6PD NILGIRI
  G6PD ORISSA
  G6PD PAWNEE
  G6PD PETRICH-LIKE;;
  G6PD PUERTO LIMON
  G6PD QUING YUAN
  G6PD REHOVOT
  G6PD RIVERSIDE
  G6PD SANTIAGO
  G6PD SANTIAGO DE CUBA
  G6PD SAPPORO-LIKE
  G6PD SASSARI;;
  G6PD SEATTLE-LIKE
  G6PD SERRES
  G6PD SPLIT
  G6PD SPRINGFIELD;;
  G6PD TAIWAN-HAKKA
  G6PD TAIWAN-HAKKA 2
  G6PD TOMAH
  G6PD VIANGCHAN
  G6PD WALTER REED
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Default View:

Zwf - COG0364
G6PD_N - pfam00479
G6PD_C - pfam02781


Swiss-Prot Protein: P11413
Identical to: NP_001035810
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZwfCOG03641.5e-20129506
G6PD_Npfam004799.5e-9835210
G6PD_Cpfam027811.3e-217212506

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002453Polymorphismp.ALA44GLYN/A
Swiss-ProtVAR_002491Polymorphismp.ALA335THRN/A
Swiss-ProtVAR_002474Polymorphismp.ARG198CYSN/A
Swiss-ProtVAR_002498Diseasep.ARG387CYSAnemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
Swiss-ProtVAR_002510Polymorphismp.ARG454CYSN/A
Swiss-ProtVAR_002460Polymorphismp.ARG81CYSN/A
Swiss-ProtVAR_002479Polymorphismp.ARG227GLNN/A
Swiss-ProtVAR_002482Polymorphismp.ARG257GLYN/A
Swiss-ProtVAR_002469Polymorphismp.ARG166HISN/A
Swiss-ProtVAR_002487Polymorphismp.ARG285HISN/A
Swiss-ProtVAR_002497Polymorphismp.ARG387HISN/A
Swiss-ProtVAR_002499Polymorphismp.ARG393HISN/A
Swiss-ProtVAR_002511Polymorphismp.ARG454HISN/A
Swiss-ProtVAR_002514Polymorphismp.ARG463HISN/A
Swiss-ProtVAR_002459Polymorphismp.ARG81HISN/A
Swiss-ProtVAR_002480Polymorphismp.ARG227LEUN/A
Swiss-ProtVAR_002512Polymorphismp.ARG459LEUN/A
Swiss-ProtVAR_002475Diseasep.ARG198PROAnemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
Swiss-ProtVAR_002506Diseasep.ARG439PROAnemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
Swiss-ProtVAR_002513Polymorphismp.ARG459PRON/A
Swiss-ProtVAR_002472Polymorphismp.ARG182TRPN/A
dbSNPrs1050829 Polymorphismp.ASN126ASPN/A
Swiss-ProtVAR_002468Polymorphismp.ASN165ASPN/A
Swiss-ProtVAR_002494Polymorphismp.ASN363LYSN/A
Swiss-ProtVAR_002455Polymorphismp.ASP58ASNN/A
Swiss-ProtVAR_002470Polymorphismp.ASP176GLYN/A
Swiss-ProtVAR_002486Polymorphismp.ASP282HISN/A
Swiss-ProtVAR_002471Polymorphismp.ASP181VALN/A
Swiss-ProtVAR_002495Polymorphismp.CYS385ARGN/A
Swiss-ProtVAR_002509Polymorphismp.GLN449HISN/A
Swiss-ProtVAR_002465Polymorphismp.GLU156LYSN/A
Swiss-ProtVAR_002483Polymorphismp.GLU274LYSN/A
Swiss-ProtVAR_002489Polymorphismp.GLU317LYSN/A
Swiss-ProtVAR_002502Polymorphismp.GLU398LYSN/A
Swiss-ProtVAR_002505Polymorphismp.GLU416LYSN/A
Swiss-ProtVAR_002508Polymorphismp.GLY447ARGN/A
Swiss-ProtVAR_002467Polymorphismp.GLY163ASPN/A
Swiss-ProtVAR_002504Diseasep.GLY410ASPAnemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
Swiss-ProtVAR_002503Polymorphismp.GLY410CYSN/A
Swiss-ProtVAR_002466Polymorphismp.GLY163SERN/A
Swiss-ProtVAR_002464Polymorphismp.GLY131VALN/A
Swiss-ProtVAR_002515Polymorphismp.GLY488VALN/A
Swiss-ProtVAR_002451Polymorphismp.HIS32ARGN/A
Swiss-ProtVAR_002454Polymorphismp.ILE48THRN/A
Swiss-ProtVAR_002492Polymorphismp.LEU342PHEN/A
Swiss-ProtVAR_002507Polymorphismp.LEU440PHEN/A
Swiss-ProtVAR_002463Polymorphismp.LEU128PRON/A
Swiss-ProtVAR_002490Polymorphismp.LEU323PRON/A
Swiss-ProtVAR_002458Polymorphismp.LEU75PRON/A
Swiss-ProtVAR_002496Polymorphismp.LYS386GLUN/A
Swiss-ProtVAR_002476Polymorphismp.MET212VALN/A
Swiss-ProtVAR_002478Polymorphismp.PHE216LEUN/A
Swiss-ProtVAR_002501Polymorphismp.PRO396LEUN/A
Swiss-ProtVAR_002493Polymorphismp.PRO353SERN/A
Swiss-ProtVAR_002461Polymorphismp.SER106CYSN/A
Swiss-ProtVAR_002473Polymorphismp.SER188PHEN/A
Swiss-ProtVAR_002484Polymorphismp.SER278PHEN/A
Swiss-ProtVAR_002485Polymorphismp.THR279SERN/A
Swiss-ProtVAR_020535Polymorphismp.TYR322HISN/A
Swiss-ProtVAR_002457Polymorphismp.TYR70HISN/A
Swiss-ProtVAR_002450Polymorphismp.VAL12LEUN/A
Swiss-ProtVAR_002477Polymorphismp.VAL213LEUN/A
Swiss-ProtVAR_002500Diseasep.VAL394LEUAnemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA)
Swiss-ProtVAR_002488Polymorphismp.VAL291METN/A
dbSNPrs1050828 Polymorphismp.VAL68METN/A
OMIM305900.0047 Diseasep.ALA14GLYG6PD ORISSA
OMIM305900.0003 Diseasep.ALA305THRG6PD CHATHAM
OMIM305900.0051 Diseasep.ALA331VALG6PD SERRES||ANEMIA, NONSEPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0031 Diseasep.ARG168CYSG6PD COIMBRA
OMIM305900.0037 Diseasep.ARG357CYSG6PD GUADALAJARA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0035 Diseasep.ARG197GLNG6PD MEXICO CITY
OMIM305900.0062 Diseasep.ARG168HISG6PD NILGIRI
OMIM305900.0016 Diseasep.ARG255HISG6PD MONTALBANO
OMIM305900.0013 Diseasep.ARG357HISG6PD BEVERLY HILLS
OMIM305900.0008 305900.0025 Diseasep.ARG363HISG6PD NASHVILLE||G6PD ANAHEIM;;||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0020 Diseasep.ARG424HISG6PD ANDALUS
OMIM305900.0029 Diseasep.ARG433HISG6PD KAIPING||G6PD ANANT;;||G6PD DHON;;||G6PD PETRICH-LIKE;;||G6PD SAPPORO-LIKE
OMIM305900.0027 Diseasep.ARG197LEUG6PD A-
OMIM305900.0021 Diseasep.ARG429LEUG6PD CANTON||G6PD GIFU;;||G6PD AGRIGENTO;;||G6PD TAIWAN-HAKKA
OMIM305900.0034 Diseasep.ARG168PROG6PD SANTIAGO||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0040 Diseasep.ARG409PROG6PD PAWNEE||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0059 Diseasep.ARG429PROG6PD COSENZA
OMIM305900.0033 Diseasep.ASN135ASPG6PD TAIWAN-HAKKA 2
OMIM305900.0001 Diseasep.ASN96ASPG6PD A+
OMIM305900.0030 Diseasep.ASN333LYSG6PD LOMA LINDA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0007 Diseasep.ASP28ASNG6PD METAPONTO
OMIM305900.0010 Diseasep.ASP252HISG6PD SEATTLE-LIKE||G6PD MODENA
OMIM305900.0049 Diseasep.ASP151VALG6PD MALAGA
OMIM305900.0014 Diseasep.CYS355ARGG6PD TOMAH
OMIM305900.0053 Diseasep.CYS239TYRG6PD AVEIRO||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0004 Diseasep.GLU126LYSG6PD ILESHA
OMIM305900.0042 Diseasep.GLU287LYSG6PD KERALA-KALYAN||G6PD KERALA;;||G6PD KALYAN
OMIM305900.0022 Diseasep.GLU368LYSG6PD PUERTO LIMON||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0009 Diseasep.GLY417ARGG6PD SANTIAGO DE CUBA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0039 Diseasep.GLY380ASPG6PD JAPAN||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0015 Diseasep.GLY380CYSG6PD RIVERSIDE
OMIM305900.0005 Diseasep.GLY133SERG6PD MAHIDOL
OMIM305900.0045 Diseasep.GLY101VALG6PD QUING YUAN
OMIM305900.0044 Diseasep.HIS2ARGG6PD GAOHE
OMIM305900.0061 Diseasep.HIS40TYRG6PD NAMORU
OMIM305900.0043 Diseasep.ILE18THRG6PD AURES
OMIM305900.0046 Diseasep.LEU312PHEG6PD MAHIDOL-LIKE
OMIM305900.0028 Diseasep.LEU293PROG6PD A-
OMIM305900.0012 Diseasep.LYS356GLUG6PD IOWA||G6PD IOWA CITY;;||G6PD SPRINGFIELD;;||G6PD WALTER REED
OMIM305900.0048 Diseasep.PHE143LEUG6PD NANKANG
OMIM305900.0011 Diseasep.PHE186LEUG6PD HARILAOU
OMIM305900.0050 Diseasep.PRO437ARGG6PD NEAPOLIS
OMIM305900.0060 Diseasep.PRO451ARGG6PD SPLIT
OMIM305900.0036 Diseasep.PRO323SERG6PD IERAPETRA
OMIM305900.0006 Diseasep.SER158PHEG6PD MEDITERRANEAN||G6PD SASSARI;;||G6PD CAGLIARI
OMIM305900.0055 Diseasep.TYR292HISG6PD REHOVOT||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0024 Diseasep.VAL183LEUG6PD GASTONIA||G6PD MARION;;||G6PD MINNESOTA;;||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0038 Diseasep.VAL364LEUG6PD ALHAMBRA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM305900.0026 Diseasep.VAL261METG6PD VIANGCHAN||G6PD JAMMU
OMIM305900.0054 Diseasep.VAL38METG6PD ASAHI



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