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Results for the Protein: P35575
206729864

G6PC_HUMAN RecName: Full=Glucose-6-phosphatase; Short=G-6-Pase; Short=G6Pase; AltName: Full=Glucose-6-phosphatase alpha; Short=G6Pase-alpha

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 1A (GSD1A)
54
1
0
0
55
Tips:
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Default View:

PgpB - COG0671
PAP2_glucose_6_phosp - cd03381
PAP2_like - cd01610
PAP2 - pfam01569
acidPPc - smart00014


Swiss-Prot Protein: P35575
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PAP2_glucose_6_phospcd033812.1e-17042280
PAP2_likecd016103.8e-2354196
PAP2pfam015691.8e-1657204
acidPPcsmart000142.8e-3762196

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046253Diseasep.ALA65PROGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005243Diseasep.ALA124THRGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046270Diseasep.ALA241THRGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005251Diseasep.ARG295CYSGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005239Diseasep.ARG83CYSGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046261Diseasep.ARG170GLNGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005240Diseasep.ARG83HISGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005241Diseasep.ARG83ILEGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046272Diseasep.ASN264LYSGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005237Diseasep.ASP38VALGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_009202Diseasep.GLN20ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_009203Diseasep.GLN54PROGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005242Diseasep.GLU110LYSGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005246Diseasep.GLY188ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005248Diseasep.GLY222ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046274Diseasep.GLY270ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046254Diseasep.GLY68ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_009204Diseasep.GLY81ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046259Diseasep.GLY122ASPGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_009207Diseasep.GLY188ASPGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005245Diseasep.GLY184GLUGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046266Diseasep.GLY188SERGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046275Diseasep.GLY270TRPGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046265Diseasep.GLY184VALGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005249Diseasep.GLY266VALGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005250Diseasep.GLY270VALGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046258Diseasep.HIS119LEUGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046264Diseasep.HIS179PROGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005254Diseasep.ILE341ASNGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046278Diseasep.LEU345ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005247Diseasep.LEU211PROGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046273Diseasep.LEU265PROGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046255Diseasep.LYS76ASNGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046249Diseasep.MET5ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046262Diseasep.PHE177CYSGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046277Diseasep.PHE322LEUGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_065164Diseasep.PRO178ALAGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046257Diseasep.PRO113LEUGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_035922Polymorphismp.PRO116LEUN/A
Swiss-ProtVAR_046271Diseasep.PRO257LEUGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046263Diseasep.PRO178SERGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046276Diseasep.SER298PROGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046250Diseasep.THR16ALAGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046251Diseasep.THR16ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_009205Diseasep.THR108ILEGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046256Diseasep.THR111ILEGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_065165Diseasep.THR255ILEGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046269Diseasep.TRP236ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046252Diseasep.TRP63ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005238Diseasep.TRP77ARGGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_009206Diseasep.TRP156LEUGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046268Diseasep.TYR209CYSGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_046260Diseasep.VAL166ALAGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005244Diseasep.VAL166GLYGlycogen storage disease 1A (GSD1A)
Swiss-ProtVAR_005253Diseasep.VAL338PHEGlycogen storage disease 1A (GSD1A)



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