Varaico: Literature-Extracted Genetic Variants

Gene:HK3
Variant:p.G246D

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
4 papers
NM_002115.3
p.G246D
c.737G>A
Surrounding Variants
1 paper
NM_002115.3
p.G246_A249del4
c.736_746del12
1 paper
NM_002115.3
p.E254A
c.761A>C
1 paper
NM_002115.3
p.R256Q
c.767G>A
1 paper
NM_002115.3
p.D264A
c.791A>C
1 paper
NM_002115.3
p.R265W
c.793C>T
1 paper
NM_002115.3
p.G266C
c.796G>T
2 papers
NM_002115.3
p.D279N
c.835G>A
2 papers
NM_002115.3
p.G281R
c.841G>C
2 papers
NM_002115.3
p.G281R
c.841G>A
1 paper
NM_002115.3
p.C237R
c.709T>C
1 paper
NM_002115.3
p.A282V
c.845C>T
1 paper
NM_002115.3
p.T288I
c.863C>T
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