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.G660R

c.1978G>C

Surrounding Variants

1 paper

NM_000189.5

p.G660R

c.1978G>A

10 papers

NM_000189.5

p.D657A

c.1970A>C

1 paper

NM_000189.5

p.D648Y

c.1942G>T

1 paper

NM_000189.5

p.E646V

c.1937A>T

4 papers

NM_000189.5

p.E646K

c.1936G>A

1 paper

NM_000189.5

p.E646*

c.1936G>T

1 paper

NM_000189.5

p.A684V

c.2051C>T

1 paper

NM_000189.5

p.Y686S

c.2057A>C

1 paper

NM_000189.5

p.E689K

c.2065G>A

1 paper

NM_000189.5

p.N692N

c.2076C>T

1 paper

NM_000189.5

p.V696E

c.2087T>A

1 paper

NM_000189.5

p.G698insFs

c.2092_2093insTT