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.L804F

c.2410C>T

Surrounding Variants

1 paper

NM_000188.3

p.R801W

c.2401C>T

1 paper

NM_000188.3

p.R801delFs

c.2402delG

1 paper

NM_000188.3

p.Q799K

c.2395C>A

1 paper

NM_000188.3

p.L809L

c.2427G>C

1 paper

NM_000188.3

p.L798H

c.2393T>A

1 paper

NM_000188.3

p.D815N

c.2443G>A

1 paper

NM_000188.3

p.S816R

c.2446A>C

1 paper

NM_000188.3

p.S816R

c.2448T>A

1 paper

NM_000188.3

p.S816R

c.2448T>G

1 paper

NM_000188.3

p.C823C

c.2469C>T

1 paper

NM_033497.3

p.A835T

c.2503G>A

1 paper

NM_000188.3

p.G835S

c.2503G>A