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.G716R

c.2146G>A

Surrounding Variants

1 paper

NM_000188.3

p.G716R

c.2146G>C

1 paper

NM_000188.3

p.A711P

c.2131G>C

1 paper

NM_000188.3

p.D726N

c.2176G>A

1 paper

NM_000188.3

p.D730N

c.2188G>A

1 paper

NM_000188.3

p.D730V

c.2189A>T

1 paper

NM_000188.3

p.D730E

c.2190C>A

1 paper

NM_000188.3

p.D730E

c.2190C>G

1 paper

NM_000188.3

p.E694K

c.2080G>A

1 paper

NM_000188.3

p.A684G

c.2051C>G

2 papers

NM_033497.3

p.R744Splc

c.2231+27T>C

NM_000188.3

p.R740Splc

c.2219+27T>C

8 papers

NM_033496.3

p.T679S

c.2036C>G

NM_000188.3

p.T680S

c.2039C>G

7 papers

NM_033496.3

p.T679S

c.2035A>T

NM_000188.3

p.T680S

c.2038A>T