Varaico: Literature-Extracted Genetic Variants

DGKD

93 papers

RefSeq Summary

This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling c...

Pfam Domains

PHaa 54–146UCSCPH domain

C1_1aa 164–216UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 236–289UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 321–443UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 763–920UCSCDiacylglycerol kinase accessory domain

DGKD_4Haa 971–1090UCSCDiacylglycerol kinase delta, helical domain

Gene Aliases

HGNC Name

diacylglycerol kinase delta

HGNC Alias Symbols

KIAA0145; DGKdelta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152879.3

p.E148D

c.444G>T

Surrounding Variants

1 paper

NM_152879.3

p.E148D

c.444G>C

1 paper

NM_152879.3

p.A140T

c.418G>A

1 paper

NM_152879.3

p.I138V

c.412A>G

1 paper

NM_152879.3

p.W137C

c.411G>C

1 paper

NM_152879.3

p.W137C

c.411G>T

1 paper

NM_152879.3

p.W137*

c.410G>A

1 paper

NM_152879.3

p.E133G

c.398A>G

1 paper

NM_152879.3

p.G162E

c.485G>A

1 paper

NM_152879.3

p.P174A

c.520C>G

1 paper

NM_152879.3

p.N178S

c.533A>G

1 paper

NM_152879.3

p.R181C

c.541C>T

1 paper

NM_152879.3

p.R181H

c.542G>A