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

2 papers

NM_152879.3

p.G378Fs

c.1134delinsCGFs

Surrounding Variants

1 paper

NM_152879.3

p.G379R

c.1135G>A

1 paper

NM_152879.3

p.D380fs

c.1138_1139fs

1 paper

NM_152879.3

p.D380fs

c.1138_1139fs

1 paper

NM_152879.3

p.G384D

c.1151G>A

1 paper

NM_152879.3

p.D391N

c.1171G>A

1 paper

NM_152879.3

p.N394S

c.1181A>G

1 paper

NM_152879.3

p.G358R

c.1072G>C

1 paper

NM_152879.3

p.A349T

c.1045G>A

1 paper

NM_152879.3

p.V336insFs

c.1006dupG

1 paper

NM_152879.3

p.Q334Fs

c.1002delinsCGFs

1 paper

NM_152879.3

p.T319A

c.955A>G

1 paper

NM_152879.3

p.C318F

c.953G>T