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

1 paper

NM_000188.3

p.R94insFs

c.281_282insG

Surrounding Variants

7 papers

NM_000188.3

p.R94Q

c.281G>A

NM_033496.3

p.R93Q

c.278G>A

2 papers

NM_000188.3

p.L93L

c.277C>T

1 paper

NM_000188.3

p.I92F

c.274A>T

1 paper

NM_000188.3

p.G87R

c.259G>C

1 paper

NM_000188.3

p.Q103Q

c.309G>A

1 paper

NM_000188.3

p.H106delFs

c.317delA

1 paper

NM_000188.3

p.F80Y

c.239T>A

1 paper

NM_000188.3

p.F80S

c.239T>C

1 paper

NM_000188.3

p.S109P

c.325T>C

1 paper

NM_000188.3

p.K77R

c.230A>G

1 paper

NM_033500.2

p.K65E

c.193A>G

1 paper

NM_000188.3

p.E76G

c.227A>G