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.G261_C262Splc

c.783+1G>T

Surrounding Variants

1 paper

NM_001205019.2

p.G261E

c.782G>A

4 papers

NM_001205019.2

p.G261R

c.781G>A

NM_000167.6

p.G255R

c.763G>A

4 papers

NM_001205019.2

p.G261R

c.781G>C

NM_000167.6

p.G255R

c.763G>C

1 paper

NM_001205019.2

p.P258L

c.773C>T

1 paper

NM_001205019.2

p.E255K

c.763G>A

2 papers

NM_001205019.2

p.G252V

c.755G>T

1 paper

NM_001205019.2

p.V249_K250Splc

c.748-1G>A

2 papers

NM_001205019.2

p.V249_K250Splc

c.748-1G>T

1 paper

NM_001205019.2

p.G261_C262Splc

c.784-2A>G

1 paper

NM_001205019.2

p.G261_C262Splc

c.784-1G>A

1 paper

NM_001205019.2

p.Q266insFs

c.796_797ins4

1 paper

NM_001205019.2

p.V271M

c.811G>A