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.V456A

c.1367T>C

Surrounding Variants

1 paper

NM_000189.5

p.V456L

c.1366G>T

1 paper

NM_000189.5

p.K451R

c.1352A>G

1 paper

NM_000189.5

p.S449N

c.1346G>A

1 paper

NM_000189.5

p.S449T

c.1346G>C

1 paper

NM_000189.5

p.D447E

c.1341T>A

1 paper

NM_000189.5

p.D447E

c.1341T>G

1 paper

NM_000189.5

p.D447A

c.1340A>C

1 paper

NM_000189.5

p.D447N

c.1339G>A

1 paper

NM_000189.5

p.E446A

c.1337A>C

1 paper

NM_000189.5

p.R444L

c.1331G>T

1 paper

NM_000189.5

p.L443L

c.1329C>T

2 papers

NM_000189.5

p.T473A

c.1417A>G