Varaico: Literature-Extracted Genetic Variants

Gene:DGKZ

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
1–12 of 63 variants
8 papers
NM_001199267.2
p.A20T
c.58G>A
6 papers
NM_001199267.2
p.A10D
c.29C>A
3 papers
NM_001199267.2
p.L581L
c.1741C>T
3 papers
NM_001199267.2
p.A608T
c.1822G>A
2 papers
NM_001199267.2
p.P31P
c.93C>G
2 papers
NM_001199267.2
p.K211*
c.631A>T
2 papers
NM_001199267.2
p.A631T
c.1891G>A
1 paper
NM_201532.3
p.E44*
c.130G>T
1 paper
NM_001199267.2
p.D14N
c.40G>A
1 paper
NM_001199267.2
p.D14_S15delFs
c.42_43delCT
1 paper
NM_001199267.2
p.A29T
c.85G>A
1 paper
NM_001199267.2
p.P37insFs
c.110dupC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."