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

1–12 of 297 variants

23 papers

NM_000188.3

p.E847K

c.2539G>A

12 papers

NM_000188.3

p.S445L

c.1334C>T

6 papers

NM_000188.3

p.G414E

c.1241G>A

5 papers

NM_000188.3

p.L7L

c.19C>T

5 papers

NM_033496.3

p.R93Q

c.278G>A

5 papers

NM_000188.3

p.T457M

c.1370C>T

5 papers

NM_000188.3

p.L529S

c.1586T>C

5 papers

NM_000188.3

p.T680S

c.2039C>G

4 papers

NM_033496.3

p.R12*

c.34C>T

4 papers

NM_033496.3

p.T65A

c.193A>G

4 papers

NM_000188.3

p.G414R

c.1240G>A

4 papers

NM_000188.3

p.K418E

c.1252A>G