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Results for the Protein: NP_277035
188497750
HK1

hexokinase-1 isoform HKI-td [Homo sapiens]

Known Diseases associated with this Protein:
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
2
1
2
1
0
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Default View:

COG5026 - COG5026
Hexokinase_1 - pfam00349
Hexokinase_2 - pfam03727


RefSeq Protein: NP_277035
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5026COG50265e-831454
Hexokinase_1pfam003491.2e-1305209
Hexokinase_2pfam037271.6e-157211448
Hexokinase_1pfam003494.6e-137453657
COG5026COG50261e-96455903
Hexokinase_2pfam037271.1e-162659896

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs906220 Polymorphismp.HIS7ARGN/A
OMIM142600.0002 Diseasep.LEU513SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
OMIM142600.0004 Diseasep.THR664SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY



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