Varaico: Literature-Extracted Genetic Variants

HK2

245 papers

RefSeq Summary

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It ...

Pfam Domains

Hexokinase_1aa 1–191UCSCHexokinase

Hexokinase_1aa 21–219UCSCHexokinase

Hexokinase_2aa 225–459UCSCHexokinase

Hexokinase_1aa 469–667UCSCHexokinase

Hexokinase_2aa 673–907UCSCHexokinase

Gene Aliases

HGNC Name

hexokinase 2

HGNC Alias Symbol

HKII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000189.5

p.K21R

c.62A>G

Surrounding Variants

1 paper

NM_000189.5

p.L14L

c.42C>T

1 paper

NM_000189.5

p.T12K

c.35C>A

1 paper

NM_000189.5

p.H5P

c.14A>C

2 papers

NM_000189.5

p.S4L

c.11C>T

1 paper

NM_000189.5

p.K21_V22Splc

c.63+7072C>T