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.E54Q

c.160G>C

Surrounding Variants

1 paper

NM_001205019.2

p.E54K

c.160G>A

1 paper

NM_001205019.2

p.E54A

c.161A>C

1 paper

NM_001205019.2

p.E54G

c.161A>G

1 paper

NM_001205019.2

p.E54V

c.161A>T

1 paper

NM_001205019.2

p.E54D

c.162A>C

1 paper

NM_001205019.2

p.E54D

c.162A>T

1 paper

NM_001205019.2

p.K58M

c.173A>T

1 paper

NM_001205019.2

p.L61P

c.182T>C

1 paper

NM_001205019.2

p.V64V

c.192C>T

1 paper

NM_001205019.2

p.Y65N

c.193T>A

1 paper

NM_001205019.2

p.K70*

c.208A>T

1 paper

NM_001205019.2

p.T71_C72delFs

c.213_214delAT