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.I790fs

c.2368_2369fs

Surrounding Variants

1 paper

NM_000189.5

p.I790_E791insFs

c.2370_2371insGA

2 papers

NM_000189.5

p.S788A

c.2362T>G

1 paper

NM_000189.5

p.R779K

c.2336G>A

2 papers

NM_000189.5

p.R775Q

c.2324G>A

1 paper

NM_000189.5

p.R771C

c.2311C>T

1 paper

NM_000189.5

p.R764C

c.2290C>T

1 paper

NM_000189.5

p.R755H

c.2264G>A

1 paper

NM_000189.5

p.V754I

c.2260G>A

1 paper

NM_000189.5

p.G751V

c.2252G>T

1 paper

NM_000189.5

p.S816N

c.2447G>A

1 paper

NM_000189.5

p.V822M

c.2464G>A

2 papers

NM_000189.5

p.T824I

c.2471C>T