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

5 papers

NM_003647.3

p.K404_A405Splc

c.1213-2A>G

Surrounding Variants

1 paper

NM_003647.3

p.A405A

c.1215G>A

1 paper

NM_003647.3

p.C415S

c.1243T>A

1 paper

NM_003647.3

p.C415S

c.1244G>C

1 paper

NM_003647.3

p.D422N

c.1264G>A

1 paper

NM_003647.3

p.E428_L429Splc

c.1284+151A>G

1 paper

NM_003647.3

p.L402F

c.1204C>T

1 paper

NM_003647.3

p.S398Y

c.1193C>A

1 paper

NM_003647.3

p.S398C

c.1193C>G

1 paper

NM_003647.3

p.S395delFs

c.1183_1184delTC

1 paper

NM_003647.3

p.R390H

c.1169G>A

2 papers

NM_003647.3

p.N385S

c.1154A>G

1 paper

NM_003647.3

p.M382T

c.1145T>C