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

2 papers

NM_000189.5

p.S155A

c.463T>G

Surrounding Variants

1 paper

NM_000189.5

p.L148P

c.443T>C

1 paper

NM_000189.5

p.L148F

c.442C>T

1 paper

NM_000189.5

p.K147R

c.440A>G

1 paper

NM_000189.5

p.K146R

c.437A>G

1 paper

NM_000189.5

p.D164A

c.491A>C

1 paper

NM_000189.5

p.K144R

c.431A>G

13 papers

NM_000189.5

p.Q142H

c.426A>C

13 papers

NM_000189.5

p.Q142H

c.426A>T

1 paper

NM_000189.5

p.F137Y

c.410T>A

1 paper

NM_000189.5

p.S170L

c.509C>T

1 paper

NM_000189.5

p.G174R

c.520G>A

1 paper

NM_000189.5

p.G174R

c.520G>C