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

8 papers

NM_000188.3

p.L529S

c.1586T>C

NM_033496.3

p.L528S

c.1583T>C

Surrounding Variants

1 paper

NM_000188.3

p.L529W

c.1586T>G

3 papers

NM_000188.3

p.F528S

c.1583T>C

1 paper

NM_000188.3

p.G526R

c.1576G>C

2 papers

NM_000188.3

p.T536A

c.1606A>G

1 paper

NM_000188.3

p.N537S

c.1610A>G

1 paper

NM_033500.2

p.V528A

c.1583T>C

1 paper

NM_000188.3

p.L541P

c.1622T>C

1 paper

NM_000188.3

p.R546G

c.1636C>G

1 paper

NM_000188.3

p.C581C

c.1743C>T

1 paper

NM_000188.3

p.M589T

c.1766T>C

5 papers

NM_033496.3

p.T600M

c.1799C>T

NM_000188.3

p.T601M

c.1802C>T

1 paper

NM_000188.3

p.C606Y

c.1817G>A