Varaico: Literature-Extracted Genetic Variants

HK2

245 papers

RefSeq Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It ...

Pfam Domains

Hexokinase_1aa 1–191UCSCHexokinase

Hexokinase_1aa 21–219UCSCHexokinase

Hexokinase_2aa 225–459UCSCHexokinase

Hexokinase_1aa 469–667UCSCHexokinase

Hexokinase_2aa 673–907UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase 2

HGNC Alias Symbol

HKII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_000189.5

p.D209A

c.626A>C

Surrounding Variants

1 paper

NM_000189.5

p.V206G

c.617T>G

1 paper

NM_000189.5

p.T213A

c.637A>G

1 paper

NM_000189.5

p.T216A

c.646A>G

1 paper

NM_000189.5

p.D202A

c.605A>C

1 paper

NM_000189.5

p.G218insFs

c.652_653insG

1 paper

NM_000189.5

p.D220N

c.658G>A

1 paper

NM_000189.5

p.D220A

c.659A>C

1 paper

NM_000189.5

p.D220E

c.660T>A

1 paper

NM_000189.5

p.D220E

c.660T>G

1 paper

NM_000189.5

p.G231D

c.692G>A

1 paper

NM_000189.5

p.T232_C237ins2

c.694_711dup18

1 paper

NM_000189.5

p.A236T

c.706G>A