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

4 papers

NM_000189.5

p.R353C

c.1057C>T

Surrounding Variants

1 paper

NM_000189.5

p.A352V

c.1055C>T

1 paper

NM_000189.5

p.D362N

c.1084G>A

1 paper

NM_000189.5

p.P363L

c.1088C>T

1 paper

NM_000189.5

p.R373W

c.1117C>T

1 paper

NM_000189.5

p.C375F

c.1124G>T

1 paper

NM_000189.5

p.V378M

c.1132G>A

1 paper

NM_000189.5

p.A383P

c.1147G>C

1 paper

NM_000189.5

p.A388V

c.1163C>T

1 paper

NM_000189.5

p.E404Q

c.1210G>C

1 paper

NM_000189.5

p.R407C

c.1219C>T

1 paper

NM_000189.5

p.V412A

c.1235T>C

1 paper

NM_000189.5

p.S415F

c.1244C>T