Varaico: Literature-Extracted Genetic Variants

DGKG

87 papers

RefSeq Summary

This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosp...

Pfam Domains

DAG_kinase_Naa 5–175UCSCDiacylglycerol kinase N-terminus

C1_1aa 272–324UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 434–555UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 578–752UCSCDiacylglycerol kinase accessory domain

Gene Aliases

HGNC Name

diacylglycerol kinase gamma

HGNC Previous Symbol

DAGK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001346.3

p.E387K

c.1159G>A

Surrounding Variants

1 paper

NM_001346.3

p.R389T

c.1166G>C

1 paper

NM_001346.3

p.H391Y

c.1171C>T

1 paper

NM_001346.3

p.S380*

c.1139C>G

1 paper

NM_001346.3

p.S380*

c.1139C>A

1 paper

NM_001346.3

p.R375H

c.1124G>A

1 paper

NM_001346.3

p.P400S

c.1198C>T

1 paper

NM_001346.3

p.T372_F373Splc

c.1116+10C>T

1 paper

NM_001346.3

p.C366F

c.1097G>T

1 paper

NM_001346.3

p.A363V

c.1088C>T

1 paper

NM_001346.3

p.K347N

c.1041G>T

1 paper

NM_001346.3

p.K347N

c.1041G>C

1 paper

NM_001346.3

p.W339*

c.1017G>A