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.R56C

c.166C>T

Surrounding Variants

2 papers

NM_003647.3

p.K57delFs

c.171delG

1 paper

NM_003647.3

p.S58fs

c.172_173fs

1 paper

NM_003647.3

p.S58fs

c.172_173fs

2 papers

NM_003647.3

p.G61G

c.183G>A

1 paper

NM_003647.3

p.R63G

c.187C>G

3 papers

NM_003647.3

p.R63P

c.188G>C

1 paper

NM_003647.3

p.R46C

c.136C>T

3 papers

NM_003647.3

p.Q43*

c.127C>T

1 paper

NM_003647.3

p.S69I

c.206G>T

2 papers

NM_003647.3

p.S41fs

c.121_122fs

1 paper

NM_003647.3

p.C77F

c.230G>T

2 papers

NM_003647.3

p.C77W

c.231C>G