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

1 paper

NM_001347.4

p.Y745S

c.2234A>C

Surrounding Variants

1 paper

NM_001347.4

p.L756V

c.2266C>G

1 paper

NM_001347.4

p.H759H

c.2277C>T

1 paper

NM_001347.4

p.P766S

c.2296C>T

1 paper

NM_001347.4

p.N775_K776del1

c.2325_2327delTTG

1 paper

NM_001347.4

p.N775_K776del2

c.2323_2327del6

1 paper

NM_001347.4

p.Y779Y

c.2337C>T

1 paper

NM_001347.4

p.Q804*

c.2410C>T

1 paper

NM_001347.4

p.E805E

c.2415G>A

1 paper

NM_001347.4

p.E728Q

c.2182G>C

1 paper

NM_001347.4

p.S833I

c.2498G>T

1 paper

NM_001347.4

p.R687P

c.2060G>C

1 paper

NM_001347.4

p.D844N

c.2530G>A