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.D73E

c.219T>A

Surrounding Variants

1 paper

NM_000189.5

p.D73E

c.219T>G

1 paper

NM_000189.5

p.D73A

c.218A>C

1 paper

NM_000189.5

p.G74W

c.220G>T

1 paper

NM_000189.5

p.G74E

c.221G>A

1 paper

NM_000189.5

p.T75A

c.223A>G

1 paper

NM_000189.5

p.T75I

c.224C>T

1 paper

NM_000189.5

p.T71T

c.213T>A

1 paper

NM_000189.5

p.P65H

c.194C>A

1 paper

NM_000189.5

p.A60T

c.178G>A

1 paper

NM_000189.5

p.H56N

c.166C>A

2 papers

NM_000189.5

p.A53S

c.157G>T

1 paper

NM_000189.5

p.K49R

c.146A>G