Varaico: Literature-Extracted Genetic Variants

DGKE

156 papers

RefSeq Summary

Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammali...

Pfam Domains

C1_1aa 60–109UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 219–347UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 369–524UCSCDiacylglycerol kinase accessory domain

Gene Aliases

HGNC Name

diacylglycerol kinase epsilon

HGNC Alias Symbols

DAGK6; DGK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003647.3

p.W127R

c.379T>C

Surrounding Variants

1 paper

NM_003647.3

p.W127R

c.379T>A

1 paper

NM_003647.3

p.M123T

c.368T>C

2 papers

NM_003647.3

p.N131K

c.393C>A

2 papers

NM_003647.3

p.N131K

c.393C>G

1 paper

NM_003647.3

p.D121N

c.361G>A

1 paper

NM_003647.3

p.T117S

c.350C>G

1 paper

NM_003647.3

p.T117S

c.349A>T

1 paper

NM_003647.3

p.C138Y

c.413G>A

1 paper

NM_003647.3

p.V140A

c.419T>C

1 paper

NM_003647.3

p.Q143*

c.427C>T

3 papers

NM_003647.3

p.K109E

c.325A>G

1 paper

NM_003647.3

p.C145Y

c.434G>A