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.V697F

c.2089G>T

Surrounding Variants

1 paper

NM_001346.3

p.S683_T688delFs

c.2049_2064del16

2 papers

NM_001346.3

p.R681Q

c.2042G>A

1 paper

NM_001346.3

p.L669_K674delFs

c.2007_2022del16

1 paper

NM_001346.3

p.E672*

c.2014G>T

1 paper

NM_001346.3

p.I657V

c.1969A>G

1 paper

NM_001346.3

p.A656S

c.1966G>T

1 paper

NM_001346.3

p.G642E

c.1925G>A