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.E172K

c.514G>A

Surrounding Variants

1 paper

NM_001346.3

p.T173A

c.517A>G

1 paper

NM_001346.3

p.G174R

c.520G>C

1 paper

NM_001346.3

p.G174R

c.520G>A

1 paper

NM_001346.3

p.V164F

c.490G>T

1 paper

NM_001346.3

p.R150Q

c.449G>A

1 paper

NM_001346.3

p.R150W

c.448C>T

1 paper

NM_001346.3

p.E145_P146insFs

c.435_436insC

1 paper

NM_001346.3

p.L144delFs

c.430delG

2 papers

NM_001346.3

p.T142S

c.425C>G

2 papers

NM_001346.3

p.T142S

c.424A>T

1 paper

NM_001346.3

p.V139L

c.415G>T

1 paper

NM_001346.3

p.V139L

c.415G>C