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

6 papers

NM_003647.3

p.L24delFs

c.71delT

Surrounding Variants

5 papers

NM_003647.3

p.L24fs

c.70_71fs

1 paper

NM_003647.3

p.L22Q

c.65T>A

1 paper

NM_003647.3

p.T26A

c.76A>G

2 papers

NM_003647.3

p.G20E

c.59G>A

1 paper

NM_003647.3

p.G20W

c.58G>T

1 paper

NM_003647.3

p.G15R

c.43G>C

1 paper

NM_003647.3

p.P33A

c.97C>G

1 paper

NM_003647.3

p.P33S

c.97C>T

1 paper

NM_003647.3

p.S13Y

c.38C>A

1 paper

NM_003647.3

p.S13A

c.37T>G

3 papers

NM_003647.3

p.P12L

c.35C>T

3 papers

NM_003647.3

p.S11*

c.32C>A