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

1 paper

NM_000189.5

p.R195W

c.583A>T

Surrounding Variants

1 paper

NM_000189.5

p.L188P

c.563T>C

1 paper

NM_000189.5

p.L188V

c.562C>G

1 paper

NM_000189.5

p.S178N

c.533G>A

1 paper

NM_000189.5

p.K176T

c.527A>C

1 paper

NM_000189.5

p.K176R

c.527A>G

1 paper

NM_000189.5

p.F175L

c.525C>A

1 paper

NM_000189.5

p.F175L

c.525C>G

1 paper

NM_000189.5

p.F175L

c.523T>C

1 paper

NM_000189.5

p.G174R

c.520G>A

1 paper

NM_000189.5

p.G174R

c.520G>C

1 paper

NM_000189.5

p.S170L

c.509C>T

1 paper

NM_000189.5

p.D202A

c.605A>C