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.V822M

c.2464G>A

Surrounding Variants

2 papers

NM_000189.5

p.T824I

c.2471C>T

1 paper

NM_000189.5

p.S816N

c.2447G>A

1 paper

NM_000189.5

p.A836S

c.2506G>T

12 papers

NM_000189.5

p.R844K

c.2531G>A

1 paper

NM_000189.5

p.E847K

c.2539G>A

1 paper

NM_000189.5

p.T857_V858del2

c.2569_2573del6

1 paper

NM_000189.5

p.T857_V858delFs

c.2571_2574del4

1 paper

NM_000189.5

p.Y865C

c.2594A>G

1 paper

NM_000189.5

p.I790_E791insFs

c.2370_2371insGA

1 paper

NM_000189.5

p.I790fs

c.2368_2369fs

2 papers

NM_000189.5

p.S788A

c.2362T>G

1 paper

NM_000189.5

p.R779K

c.2336G>A