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.W1091G

c.3271T>G

Surrounding Variants

1 paper

NM_152879.3

p.P1090L

c.3269C>T

1 paper

NM_152879.3

p.G1099S

c.3295G>A

1 paper

NM_152879.3

p.Q1063_D1065del3

c.3187_3194del9

1 paper

NM_152879.3

p.L1062_Q1063Splc

c.3187-381G>A

1 paper

NM_152879.3

p.L1062_Q1063Splc

c.3187-466G>A

1 paper

NM_152879.3

p.T1052T

c.3156G>A

1 paper

NM_152879.3

p.N1043K

c.3129T>A

1 paper

NM_152879.3

p.N1043K

c.3129T>G

3 papers

NM_152879.3

p.V1038I

c.3112G>A

1 paper

NM_152879.3

p.R1003Q

c.3008G>A

1 paper

NM_152879.3

p.N1129S

c.3386A>G

1 paper

NM_152879.3

p.A1134G

c.3401C>G