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Results for the Protein: NP_000153
4503951
GCK

glucokinase isoform 1 [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_000153
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Hexokinase_1pfam003494.5e-10311217
Hexokinase_2pfam037271.1e-150219456

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM138079.0014 Diseasep.ALA377THRMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0012 Diseasep.ALA455VALHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
OMIM138079.0002 Diseasep.ARG185TERDIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET
OMIM138079.0016 Diseasep.GLU338LYSMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0008 Diseasep.GLU264TERMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0001 Diseasep.GLU278TERMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0004 Diseasep.GLY260ARGMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0005 Diseasep.GLY298ARGMATURITY-ONSET DIABETES OF THE YOUNG, TYPE II
OMIM138079.0010 Diseasep.MET209LYSDIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
OMIM138079.0007 Diseasep.SER130PRODIABETES MELLITUS, GESTATIONAL
OMIM138079.0003 138079.0011 Diseasep.THR227METDIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II, INCLUDED
OMIM138079.0013 Diseasep.TYR213CYSHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
OMIM138079.0015 Diseasep.VAL90LEUHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
OMIM138079.0009 Diseasep.VAL454METHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3



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