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.N507S

c.1520A>G

Surrounding Variants

2 papers

NM_001346.3

p.F508del1

c.1522_1523delAAA

1 paper

NM_001346.3

p.K510E

c.1528A>G

1 paper

NM_001346.3

p.G532E

c.1595G>A

1 paper

NM_001346.3

p.G571E

c.1712G>A

1 paper

NM_001346.3

p.Q463E

c.1387C>G

1 paper

NM_001346.3

p.R453W

c.1357C>T

1 paper

NM_001346.3

p.I451S

c.1352T>G

1 paper

NM_001346.3

p.G448E

c.1343G>A

1 paper

NM_001346.3

p.G448R

c.1342G>C

1 paper

NM_001346.3

p.G448R

c.1342G>A

1 paper

NM_001346.3

p.V437F

c.1309G>T

1 paper

NM_001346.3

p.L435_L436insC

c.1303_1307ins3