Varaico: Literature-Extracted Genetic Variants

HK1

314 papers

RefSeq Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer mem...

Pfam Domains

Hexokinase_1aa 21–219UCSCHexokinase

Hexokinase_2aa 225–459UCSCHexokinase

Hexokinase_1aa 469–667UCSCHexokinase

Hexokinase_2aa 673–907UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase 1

HGNC Alias Symbol

HKI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000188.3

p.K418E

c.1252A>G

Surrounding Variants

1 paper

NM_033496.3

p.T418A

c.1252A>G

6 papers

NM_000188.3

p.G414E

c.1241G>A

4 papers

NM_000188.3

p.G414R

c.1240G>A

3 papers

NM_000188.3

p.G414R

c.1240G>C

1 paper

NM_000188.3

p.N400K

c.1200C>A

1 paper

NM_000188.3

p.N400K

c.1200C>G

1 paper

NM_000188.3

p.D399G

c.1196A>G

1 paper

NM_000188.3

p.G391C

c.1171G>T

1 paper

NM_000188.3

p.L390R

c.1169T>G

1 paper

NM_000188.3

p.N384T

c.1151A>C

1 paper

NM_000188.3

p.A383_A392del10

c.1147_1175del30

1 paper

NM_000188.3

p.I377V

c.1129A>G