Varaico: Literature-Extracted Genetic Variants

Gene:HK3
Variant:p.Q578R

HK3

111 papers

RefSeq Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric en...

Pfam Domains

Hexokinase_1aa 32–232UCSCHexokinase
Hexokinase_2aa 238–472UCSCHexokinase
Hexokinase_1aa 482–673UCSCHexokinase
Hexokinase_2aa 679–913UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase 3

HGNC Alias Symbol

HKIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002115.3
p.Q578R
c.1733A>G
Surrounding Variants
1 paper
NM_002115.3
p.Q574K
c.1720C>A
1 paper
NM_002115.3
p.I568I
c.1704T>A
1 paper
NM_002115.3
p.V559V
c.1677G>A
1 paper
NM_002115.3
p.V559M
c.1675G>A
1 paper
NM_002115.3
p.R554H
c.1661G>A
1 paper
NM_002115.3
p.R554C
c.1660C>T
1 paper
NM_002115.3
p.R549C
c.1645C>T
2 papers
NM_002115.3
p.T546M
c.1637C>T
1 paper
NM_002115.3
p.D542A
c.1625A>C
1 paper
NM_002115.3
p.I588I
c.1764C>T
1 paper
NM_002115.3
p.E534K
c.1600G>A
3 papers
NM_002115.3
p.Q600H
c.1800G>T
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