Varaico: Literature-Extracted Genetic Variants

Gene:DGKZ
Variant:p.R628Q

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.R628Q
c.1883G>A
Surrounding Variants
2 papers
NM_001199267.2
p.A631T
c.1891G>A
3 papers
NM_001199267.2
p.A608T
c.1822G>A
3 papers
NM_001199267.2
p.L581L
c.1741C>T
1 paper
NM_001199267.2
p.E579K
c.1735G>A
1 paper
NM_001199267.2
p.H577Y
c.1729C>T
1 paper
NM_001199267.2
p.A571T
c.1711G>A
1 paper
NM_001199267.2
p.Q647K
c.1939C>A
1 paper
NM_001199267.2
p.S652T
c.1955G>C
1 paper
NM_001199267.2
p.G541V
c.1622G>T
1 paper
NM_001199267.2
p.S712F
c.2135C>T
1 paper
NM_001199267.2
p.F717S
c.2150T>C
1 paper
NM_001199267.2
p.V526I
c.1576G>A
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