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.S190G

c.568A>G

Surrounding Variants

2 papers

NM_003647.3

p.P188T

c.562C>A

2 papers

NM_003647.3

p.I187fs

c.559_560fs

1 paper

NM_003647.3

p.I195M

c.585T>G

1 paper

NM_003647.3

p.K183R

c.548A>G

1 paper

NM_003647.3

p.D201N

c.601G>A

1 paper

NM_003647.3

p.T204insFs

c.610dupA

1 paper

NM_003647.3

p.T204delFs

c.610delA

4 papers

NM_003647.3

p.T204fs

c.610_611fs

2 papers

NM_003647.3

p.M168I

c.504G>A

2 papers

NM_003647.3

p.M168I

c.504G>C

2 papers

NM_003647.3

p.M168I

c.504G>T

1 paper

NM_003647.3

p.N170delFs

c.509delA