Varaico: Literature-Extracted Genetic Variants

DGKZ

71 papers

RefSeq Summary

The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling casca...

Pfam Domains

C1_1aa 172–231UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 295–416UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 446–603UCSCDiacylglycerol kinase accessory domain

DGKIaa 642–751UCSCDiacylglycerol kinase iota-like domain

Ankaa 822–853UCSCAnkyrin repeat

Ankaa 857–889UCSCAnkyrin repeat

Gene Aliases

HGNC Name

diacylglycerol kinase zeta

HGNC Alias Symbols

DAGK5; hDGKzeta; DGK-ZETA; DAGK6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001199267.2

p.S90N

c.269G>A

Surrounding Variants

1 paper

NM_001199267.2

p.S90_E91Splc

c.270+1G>A

1 paper

NM_001199267.2

p.Q82*

c.244C>T

1 paper

NM_001199267.2

p.G73E

c.218G>A

1 paper

NM_001199267.2

p.P69P

c.207G>A

1 paper

NM_001199267.2

p.P68T

c.202C>A

1 paper

NM_001199267.2

p.N104I

c.311A>T

1 paper

NM_001199267.2

p.V105A

c.314T>C

1 paper

NM_001199267.2

p.V125_R127del3

c.373_380del9

1 paper

NM_001105540.2

p.M1insFs

c.1_2ins49

1 paper

NM_001199267.2

p.R157H

c.470G>A

1 paper

NM_001199267.2

p.E166K

c.496G>A

1 paper

NM_001199267.2

p.R178Q

c.533G>A