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

2 papers

NM_001205019.2

p.M1I

c.3G>A

Surrounding Variants

1 paper

NM_001205019.2

p.A2insFs

c.5dupC

1 paper

NM_001205019.2

p.M1R

c.2T>G

1 paper

NM_001205019.2

p.M1insFs

c.3dupG

1 paper

NM_001205019.2

p.M1L

c.1A>C

1 paper

NM_001205019.2

p.M1L

c.1A>T

1 paper

NM_001205019.2

p.S4insFs

c.10dupT

1 paper

NM_001205019.2

p.K6delFs

c.16delA

1 paper

NM_001205019.2

p.K6insFs

c.18dupG

1 paper

NM_001205019.2

p.K6K

c.18G>A

1 paper

NM_001205019.2

p.L9*

c.26T>A

1 paper

NM_001205019.2

p.G10delFs

c.29delG

2 papers

NM_001205019.2

p.G10G

c.30G>A