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Results for the Protein: NP_277043
15967161
GCK

glucokinase isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  DIABETES MELLITUS, GESTATIONAL
  DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET
  DIABETES MELLITUS, PERMANENT NEONATAL
  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
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Default View:

COG5026 - COG5026
Hexokinase_1 - pfam00349
Hexokinase_2 - pfam03727


RefSeq Protein: NP_277043
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Hexokinase_1pfam003494.8e-10210216
Hexokinase_2pfam037271.1e-150218455

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM138079.0014 Diseasep.ALA376THRMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0012 Diseasep.ALA454VALHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
OMIM138079.0002 Diseasep.ARG184TERDIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET
OMIM138079.0016 Diseasep.GLU337LYSMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0008 Diseasep.GLU263TERMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0001 Diseasep.GLU277TERMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0004 Diseasep.GLY259ARGMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0005 Diseasep.GLY297ARGMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0010 Diseasep.MET208LYSDIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
OMIM138079.0007 Diseasep.SER129PRODIABETES MELLITUS, GESTATIONAL
OMIM138079.0003 138079.0011 Diseasep.THR226METDIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
OMIM138079.0013 Diseasep.TYR212CYSHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
OMIM138079.0015 Diseasep.VAL89LEUHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
OMIM138079.0009 Diseasep.VAL453METHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3



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