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.W853delFs

c.2557delT

Surrounding Variants

1 paper

NM_152879.3

p.W853fs

c.2557_2558fs

1 paper

NM_152879.3

p.G855fs

c.2563_2564fs

1 paper

NM_152879.3

p.G849E

c.2546G>A

1 paper

NM_152879.3

p.V840V

c.2520C>A

1 paper

NM_152879.3

p.L809delFs

c.2425delT

1 paper

NM_152879.3

p.A876_V877delins

c.2628_2629delinsTT

1 paper

NM_152879.3

p.A884A

c.2652C>A

1 paper

NM_152879.3

p.V885I

c.2653G>A

1 paper

NM_152879.3

p.R895Q

c.2684G>A

1 paper

NM_152879.3

p.Q898L

c.2693A>T

1 paper

NM_152879.3

p.R900C

c.2698C>T

1 paper

NM_152879.3

p.R900H

c.2699G>A