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_033496.3

p.A457V

c.1370C>T

Surrounding Variants

1 paper

NM_000188.3

p.T457K

c.1370C>A

2 papers

NM_000188.3

p.T457R

c.1370C>G

NM_033500.2

p.T445R

c.1334C>G

6 papers

NM_000188.3

p.T457M

c.1370C>T

NM_033500.2

p.T445M

c.1334C>T

NM_033498.3

p.T461M

c.1382C>T

1 paper

NM_033496.3

p.G451R

c.1351G>A

1 paper

NM_033496.3

p.G451R

c.1351G>C

1 paper

NM_000188.3

p.K451R

c.1352A>G

1 paper

NM_000188.3

p.Q469Q

c.1407G>A

13 papers

NM_000188.3

p.S445L

c.1334C>T

NM_033497.3

p.S449L

c.1346C>T

1 paper

NM_000188.3

p.L444P

c.1331T>C

1 paper

NM_000188.3

p.T480I

c.1439C>T

3 papers

NM_033497.3

p.K485K

c.1455G>A

NM_000188.3

p.K481K

c.1443G>A

1 paper

NM_000188.3

p.D482fs

c.1444_1445fs