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

3 papers

NM_033500.2

p.G847R

c.2539G>A

Surrounding Variants

1 paper

NM_033500.2

p.V846M

c.2536G>A

1 paper

NM_000188.3

p.D861delFs

c.2581delG

1 paper

NM_000188.3

p.G862R

c.2584G>A

1 paper

NM_000188.3

p.G862R

c.2584G>C

1 paper

NM_000188.3

p.Y865Y

c.2595C>T

1 paper

NM_033496.3

p.D851N

c.2551G>A

3 papers

NM_000188.3

p.L867F

c.2599C>T

1 paper

NM_000188.3

p.G850E

c.2549G>A

6 papers

NM_033496.3

p.H867Y

c.2599C>T

NM_000188.3

p.H868Y

c.2602C>T

1 paper

NM_000188.3

p.P869A

c.2605C>G

2 papers

NM_033496.3

p.P868S

c.2602C>T

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