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

4 papers

NM_001205019.2

p.K140E

c.418A>G

Surrounding Variants

1 paper

NM_001205019.2

p.S139S

c.417C>A

1 paper

NM_001205019.2

p.S139S

c.417C>T

1 paper

NM_001205019.2

p.S139fs

c.415_416fs

1 paper

NM_001205019.2

p.G142D

c.425G>A

2 papers

NM_001205019.2

p.K153Q

c.457A>C

2 papers

NM_001205019.2

p.K153R

c.458A>G

2 papers

NM_001205019.2

p.L154P

c.461T>C

1 paper

NM_001205019.2

p.R155fs

c.463_464fs

1 paper

NM_001205019.2

p.R155G

c.463C>G

1 paper

NM_001205019.2

p.R155fs

c.463_464fs

1 paper

NM_001205019.2

p.W156R

c.466T>A

1 paper

NM_001205019.2

p.W156R

c.466T>C