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.R273P

c.818G>C

Surrounding Variants

1 paper

NM_003647.3

p.R273fs

c.817_818fs

1 paper

NM_003647.3

p.V274I

c.820G>A

1 paper

NM_003647.3

p.L275P

c.824T>C

2 papers

NM_003647.3

p.V276delFs

c.826delG

2 papers

NM_003647.3

p.V276fs

c.826_827fs

1 paper

NM_003647.3

p.G281V

c.842G>T

1 paper

NM_003647.3

p.C264insFs

c.790_791insA

2 papers

NM_003647.3

p.C264fs

c.790_791fs

2 papers

NM_003647.3

p.C264delFs

c.790_791delTG

3 papers

NM_003647.3

p.G284E

c.851G>A

1 paper

NM_003647.3

p.Q262K

c.784C>A

1 paper

NM_003647.3

p.W285L

c.854G>T