Varaico: Literature-Extracted Genetic Variants

GK

301 papers

RefSeq Summary

The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by AT...

Pfam Domains

FGGY_Naa 12–272UCSCFGGY family of carbohydrate kinases, N-terminal domain

FGGY_Caa 281–473UCSCFGGY family of carbohydrate kinases, C-terminal domain

Gene Aliases

HGNC Name

glycerol kinase

HGNC Alias Symbols

GK1; GKD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001205019.2

p.L219P

c.656T>C

Surrounding Variants

1 paper

NM_001205019.2

p.C220Y

c.659G>A

1 paper

NM_001205019.2

p.E221K

c.661G>A

1 paper

NM_001205019.2

p.E214insFs

c.641_642insC

1 paper

NM_001205019.2

p.H211Y

c.631C>T

1 paper

NM_001205019.2

p.R204insFs

c.610_611insG

2 papers

NM_001205019.2

p.N201D

c.601A>G

1 paper

NM_001205019.2

p.D198G

c.593A>G

1 paper

NM_001205019.2

p.E221Splc

c.662+68A>G

1 paper

NM_001205019.2

p.N191_G192insFs

c.573_574insC

1 paper

NM_001205019.2

p.G188V

c.563G>T

1 paper

NM_001205019.2

p.P226delFs

c.676delC

1 paper

NM_001205019.2

p.L230_P231delFs

c.689_692del4