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.P37L

c.110C>T

Surrounding Variants

1 paper

NM_001347.4

p.G33S

c.97G>A

1 paper

NM_001347.4

p.G44ins2

c.131_132ins6

1 paper

NM_001347.4

p.G42_G44ins1

c.126_131dup6

1 paper

NM_001347.4

p.E46K

c.136G>A

3 papers

NM_001347.4

p.A24T

c.70G>A

1 paper

NM_001347.4

p.V66L

c.196G>T

1 paper

NM_001347.4

p.V66L

c.196G>C

1 paper

NM_001347.4

p.T67M

c.200C>T

1 paper

NM_001347.4

p.T72A

c.214A>G

1 paper

NM_001347.4

p.T72I

c.215C>T

1 paper

NM_001347.4

p.C77C

c.231C>T

1 paper

NM_001347.4

p.V118F

c.352G>T