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

2 papers

NM_033496.3

p.A835T

c.2503G>A

NM_000188.3

p.A836T

c.2506G>A

Surrounding Variants

1 paper

NM_000188.3

p.A836S

c.2506G>T

1 paper

NM_000188.3

p.G835S

c.2503G>A

1 paper

NM_033497.3

p.A835T

c.2503G>A

1 paper

NM_033497.3

p.V846M

c.2536G>A

2 papers

NM_001322364.2

p.D847N

c.2539G>A

1 paper

NM_000188.3

p.R846G

c.2536C>G

1 paper

NM_000188.3

p.R846H

c.2537G>A

24 papers

NM_000188.3

p.E847K

c.2539G>A

NM_033497.3

p.E851K

c.2551G>A

NM_033496.3

p.E846K

c.2536G>A

NM_033500.2

p.E835K

c.2503G>A

1 paper

NM_000188.3

p.C823C

c.2469C>T

1 paper

NM_000188.3

p.G850E

c.2549G>A

1 paper

NM_033496.3

p.D851N

c.2551G>A

1 paper

NM_000188.3

p.S816R

c.2448T>A