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Results for the Protein: P35557
547696
GCK

HXK4_HUMAN RecName: Full=Glucokinase; AltName: Full=Hexokinase type IV; Short=HK IV; AltName: Full=Hexokinase-4; Short=HK4; AltName: Full=Hexokinase-D

Known Diseases associated with this Protein:
  FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA 3 (HHF3)
  MATURITY-ONSET DIABETES OF THE YOUNG 2 (MODY2)
43
4
0
0
47
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Swiss-Prot Protein: P35557
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012353Diseasep.ALA119ASPMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010585Diseasep.ALA53SERMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010583Polymorphismp.ALA11THRN/A
Swiss-ProtVAR_003700Diseasep.ALA188THRMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010593Diseasep.ALA259THRMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010598Diseasep.ALA384THRMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010599Diseasep.ARG392CYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010584Diseasep.ARG36TRPMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003692Polymorphismp.ASP4ASNN/A
Swiss-ProtVAR_010592Diseasep.CYS213ARGMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010597Diseasep.CYS382TYRMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003709Diseasep.GLU279GLNMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003711Diseasep.GLU300GLNMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003702Diseasep.GLU221LYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003706Diseasep.GLU256LYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003712Diseasep.GLU300LYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003693Diseasep.GLU70LYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003694Diseasep.GLY80ALAMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003698Diseasep.GLY175ARGMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003708Diseasep.GLY261ARGMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003710Diseasep.GLY299ARGMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003704Diseasep.GLY227CYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010594Diseasep.GLY261GLUMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003695Diseasep.GLY80SERMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_012354Diseasep.GLY385VALMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010587Diseasep.HIS137ARGMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_012352Diseasep.ILE110THRMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_012350Diseasep.LEU164PROMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003713Diseasep.LEU309PROMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003714Diseasep.LYS414GLUMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_012351Diseasep.MET210LYSMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003696Polymorphismp.MET107THRN/A
Swiss-ProtVAR_010591Diseasep.MET210THRMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010588Diseasep.PHE150SERMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010595Diseasep.SER336LEUMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003697Diseasep.SER131PROMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010590Diseasep.THR209METMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003705Diseasep.THR228METMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010589Diseasep.THR168PROMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_066615Polymorphismp.THR342PRON/A
Swiss-ProtVAR_003707Diseasep.TRP257ARGMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010586Diseasep.TYR108HISMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003701Diseasep.VAL203ALAMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003699Diseasep.VAL182METMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003703Diseasep.VAL226METMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_010596Diseasep.VAL367METMaturity-onset diabetes of the young 2 (MODY2)
Swiss-ProtVAR_003715Diseasep.VAL455METFamilial hyperinsulinemic hypoglycemia 3 (HHF3)



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