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_033496.3

p.N55_F66delFs

c.165_196del32

Surrounding Variants

1 paper

NM_000188.3

p.F55_T66delFs

c.165_196del32

1 paper

NM_000188.3

p.A59G

c.176C>G

1 paper

NM_000188.3

p.T60P

c.178A>C

1 paper

NM_000188.3

p.V61V

c.183C>G

1 paper

NM_000188.3

p.L51F

c.151C>T

1 paper

NM_000188.3

p.G50G

c.150C>T

1 paper

NM_000188.3

p.K48R

c.143A>G

1 paper

NM_000188.3

p.K48E

c.142A>G

4 papers

NM_033496.3

p.T65A

c.193A>G

1 paper

NM_033496.3

p.R41R

c.123C>T

1 paper

NM_000188.3

p.R42P

c.125G>C

1 paper

NM_000188.3

p.T41T

c.123T>A