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

1–12 of 213 variants

24 papers

NM_003647.3

p.W322*

c.966G>A

19 papers

NM_003647.3

p.W322*

c.965G>A

9 papers

NM_003647.3

p.K296_G297Splc

c.888+40A>G

6 papers

NM_003647.3

p.L24delFs

c.71delT

5 papers

NM_003647.3

p.L24fs

c.70_71fs

5 papers

NM_003647.3

p.Q334*

c.1000C>T

5 papers

NM_003647.3

p.K404_A405Splc

c.1213-2A>G

4 papers

NM_003647.3

p.R155Splc

c.465-2A>G

4 papers

NM_003647.3

p.W158fs

c.472_473fs

4 papers

NM_003647.3

p.V163fs

c.487_488fs

4 papers

NM_003647.3

p.T204fs

c.610_611fs

4 papers

NM_003647.3

p.R273P

c.818G>C