Varaico: Literature-Extracted Genetic Variants

Gene:DGKZ
Variant:p.K211*

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
2 papers
NM_001199267.2
p.K211*
c.631A>T
Surrounding Variants
1 paper
NM_001199267.2
p.V218M
c.652G>A
1 paper
NM_001199267.2
p.Q225Q
c.675G>A
1 paper
NM_001199267.2
p.E227Q
c.679G>C
1 paper
NM_001199267.2
p.K260R
c.779A>G
1 paper
NM_001199267.2
p.G352E
c.1055G>A
1 paper
NM_001199267.2
p.G355D
c.1064G>A
1 paper
NM_001199267.2
p.H186N
c.556C>A
1 paper
NM_001199267.2
p.G182S
c.544G>A
1 paper
NM_001199267.2
p.R179H
c.536G>A
1 paper
NM_001199267.2
p.R178Q
c.533G>A
1 paper
NM_001199267.2
p.S362_P373del12
c.1084_1118del36
1 paper
NM_001199267.2
p.G395C
c.1183G>T
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