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.A236T

c.706G>A

Surrounding Variants

1 paper

NM_000189.5

p.A236S

c.706G>T

1 paper

NM_000189.5

p.T232_C237ins2

c.694_711dup18

1 paper

NM_000189.5

p.E249V

c.746A>T

1 paper

NM_000189.5

p.G250A

c.749G>C

1 paper

NM_000189.5

p.I257T

c.770T>C

1 paper

NM_000189.5

p.N258D

c.772A>G

1 paper

NM_000189.5

p.W261L

c.782G>T

1 paper

NM_000189.5

p.N271N

c.813C>T

1 paper

NM_000189.5

p.I273insFs

c.817dupA

1 paper

NM_000189.5

p.R274C

c.820C>T

1 paper

NM_000189.5

p.Q279E

c.835C>G

1 paper

NM_000189.5

p.G284C

c.850G>T