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.R567W

c.1699C>T

Surrounding Variants

1 paper

NM_001347.4

p.L578_H579Splc

c.1734+10C>T

1 paper

NM_001347.4

p.L544fs

c.1630_1631fs

1 paper

NM_001347.4

p.L544delFs

c.1631delA

1 paper

NM_001347.4

p.A527Splc

c.1580-2A>C

1 paper

NM_001347.4

p.V479M

c.1435G>A

1 paper

NM_001347.4

p.R475R

c.1423C>A

1 paper

NM_001347.4

p.R470Q

c.1409G>A

1 paper

NM_001347.4

p.R470W

c.1408C>T

1 paper

NM_001347.4

p.A450V

c.1349C>T

3 papers

NM_001347.4

p.T383M

c.1148C>T

1 paper

NM_001347.4

p.T383A

c.1147A>G

1 paper

NM_001347.4

p.A382T

c.1144G>A