Varaico: Literature-Extracted Genetic Variants

DGKQ

86 papers

RefSeq Summary

The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckl...

Pfam Domains

C1_1aa 61–110UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 184–237UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

RAaa 296–357UCSCRas association (RalGDS/AF-6) domain

RAaa 395–494UCSCRas association (RalGDS/AF-6) domain

RBD_DGKthetaaa 496–575UCSCDiacylglycerol kinase theta, RNA-binding domain-like

DAGK_cataa 588–712UCSCDiacylglycerol kinase catalytic domain

Gene Aliases

HGNC Name

diacylglycerol kinase theta

HGNC Previous Symbol

DAGK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001347.4

p.G125S

c.373G>A

Surrounding Variants

1 paper

NM_001347.4

p.V120L

c.358G>T

1 paper

NM_001347.4

p.K131_R132ins6

c.391_395ins18

1 paper

NM_001347.4

p.V118F

c.352G>T

1 paper

NM_001347.4

p.C149W

c.447C>G

1 paper

NM_001347.4

p.H179_D180Splc

c.537+28G>A

1 paper

NM_001347.4

p.G219R

c.655G>C

1 paper

NM_001347.4

p.G219R

c.655G>A

1 paper

NM_001347.4

p.A228T

c.682G>A

1 paper

NM_001347.4

p.R240H

c.719G>A

1 paper

NM_001347.4

p.T259delFs

c.775_776delGT

1 paper

NM_001347.4

p.D275Y

c.823G>T

1 paper

NM_001347.4

p.D278N

c.832G>A