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.W156R

c.466T>A

Surrounding Variants

1 paper

NM_001205019.2

p.W156R

c.466T>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

2 papers

NM_001205019.2

p.L154P

c.461T>C

1 paper

NM_001205019.2

p.L158F

c.472C>T

2 papers

NM_001205019.2

p.K153R

c.458A>G

2 papers

NM_001205019.2

p.K153Q

c.457A>C

1 paper

NM_001205019.2

p.R162K

c.485G>A

1 paper

NM_001205019.2

p.K163R

c.488A>G

1 paper

NM_001205019.2

p.Q165E

c.493C>G

1 paper

NM_001205019.2

p.Q165*

c.493C>T