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.K42_R43del2

c.124_128del6

Surrounding Variants

1 paper

NM_001199267.2

p.K42_R43del1

c.125_127delAGC

1 paper

NM_001199267.2

p.N41fs

c.121_122fs

1 paper

NM_001199267.2

p.N41delFs

c.122_123delAC

1 paper

NM_001199267.2

p.R39Q

c.116G>A

1 paper

NM_001199267.2

p.R39*

c.115C>T

1 paper

NM_001199267.2

p.P37insFs

c.110dupC

1 paper

NM_001199267.2

p.R49R

c.147G>C

2 papers

NM_001199267.2

p.P31P

c.93C>G

1 paper

NM_001199267.2

p.A29T

c.85G>A

8 papers

NM_001199267.2

p.A20T

c.58G>A

1 paper

NM_001199267.2

p.D14_S15delFs

c.42_43delCT

1 paper

NM_001199267.2

p.D14N

c.40G>A