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

4 papers

NM_003647.3

p.R155Splc

c.465-2A>G

Surrounding Variants

1 paper

NM_003647.3

p.R155Splc

c.465-3C>T

4 papers

NM_003647.3

p.W158fs

c.472_473fs

1 paper

NM_003647.3

p.W158*

c.473G>A

1 paper

NM_003647.3

p.W158*

c.474G>A

1 paper

NM_003647.3

p.T162R

c.485C>G

1 paper

NM_003647.3

p.V163I

c.487G>A

4 papers

NM_003647.3

p.V163fs

c.487_488fs

2 papers

NM_003647.3

p.H164Y

c.490C>T

1 paper

NM_003647.3

p.D165G

c.494A>G

1 paper

NM_003647.3

p.C167Y

c.500G>A

3 papers

NM_003647.3

p.C167W

c.501C>G

2 papers

NM_003647.3

p.M168I

c.504G>A