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.T519A

c.1555A>G

Surrounding Variants

1 paper

NM_000189.5

p.M511I

c.1533G>A

1 paper

NM_000189.5

p.M511I

c.1533G>C

1 paper

NM_000189.5

p.M511I

c.1533G>T

3 papers

NM_000189.5

p.R497Q

c.1490G>A

1 paper

NM_000189.5

p.R497R

c.1489C>A

1 paper

NM_000189.5

p.R497*

c.1489C>T

1 paper

NM_000189.5

p.M491V

c.1471A>G

1 paper

NM_000189.5

p.R490W

c.1468A>T

1 paper

NM_000189.5

p.E486G

c.1457A>G

2 papers

NM_000189.5

p.T473A

c.1417A>G

1 paper

NM_000189.5

p.V456A

c.1367T>C

1 paper

NM_000189.5

p.V456L

c.1366G>T