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.M491L

c.1471A>T

Surrounding Variants

1 paper

NM_000188.3

p.M491L

c.1471A>C

1 paper

NM_000188.3

p.R492G

c.1474C>G

1 paper

NM_033496.3

p.E485E

c.1455G>A

3 papers

NM_000188.3

p.L485L

c.1455G>A

1 paper

NM_033500.2

p.L485L

c.1455G>A

1 paper

NM_000188.3

p.D482fs

c.1444_1445fs

3 papers

NM_033497.3

p.K485K

c.1455G>A

NM_000188.3

p.K481K

c.1443G>A

1 paper

NM_000188.3

p.T480I

c.1439C>T

1 paper

NM_000188.3

p.Q469Q

c.1407G>A

1 paper

NM_000188.3

p.S514A

c.1540T>G

1 paper

NM_000188.3

p.R517Q

c.1550G>A

1 paper

NM_033496.3

p.A457V

c.1370C>T