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_000188.3

p.M1V

c.1A>G

Surrounding Variants

2 papers

NM_000188.3

p.M1K

c.2T>A

2 papers

NM_000188.3

p.M1T

c.2T>C

1 paper

NM_000188.3

p.M1I

c.3G>A

5 papers

NM_000188.3

p.L7L

c.19C>T

1 paper

NM_000188.3

p.L7Q

c.20T>A

1 paper

NM_000188.3

p.T12K

c.35C>A

1 paper

NM_000188.3

p.Q18L

c.53A>T

1 paper

NM_000188.3

p.Q18delFs

c.54delG

1 paper

NM_000188.3

p.K21R

c.62A>G

1 paper

NM_000188.3

p.K21_I22Splc

c.63+66C>G

1 paper

NM_000188.3

p.K21_I22Splc

c.63+85C>G

1 paper

NM_033496.3

p.G13D

c.38G>A