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

24 papers

NM_003647.3

p.W322*

c.966G>A

Surrounding Variants

19 papers

NM_003647.3

p.W322*

c.965G>A

1 paper

NM_003647.3

p.Y326*

c.978T>A

1 paper

NM_003647.3

p.Y326*

c.978T>G

1 paper

NM_003647.3

p.T319_L320insFs

c.955_958dup4

1 paper

NM_003647.3

p.N318_L320ins1

c.953_958dup6

1 paper

NM_003647.3

p.G328R

c.982G>A

1 paper

NM_003647.3

p.G328R

c.982G>C

1 paper

NM_003647.3

p.L316P

c.947T>C

1 paper

NM_003647.3

p.N314K

c.942C>A

1 paper

NM_003647.3

p.N314K

c.942C>G

1 paper

NM_003647.3

p.N314N

c.942C>T

1 paper

NM_003647.3

p.V332L

c.994G>C