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Results for the Protein: NP_277031
15991827
HK1

hexokinase-1 isoform HKI-R [Homo sapiens]

Known Diseases associated with this Protein:
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
2
0
2
0
0
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Default View:

COG5026 - COG5026
Hexokinase_1 - pfam00349
Hexokinase_2 - pfam03727


RefSeq Protein: NP_277031
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5026COG50262.8e-802465
Hexokinase_1pfam003491.2e-12716220
Hexokinase_2pfam037271.6e-157222459
Hexokinase_1pfam003494.6e-137464668
COG5026COG50261e-96466914
Hexokinase_2pfam037271.1e-162670907

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM142600.0002 Diseasep.LEU524SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
OMIM142600.0004 Diseasep.THR675SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY



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