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.R316fs

c.946_947fs

Surrounding Variants

1 paper

NM_001346.3

p.R316delFs

c.947delC

1 paper

NM_001346.3

p.R316K

c.947G>A

1 paper

NM_001346.3

p.C313delFs

c.937_938delCA

1 paper

NM_001346.3

p.I318V

c.952A>G

2 papers

NM_001346.3

p.V314fs

c.940_941fs

1 paper

NM_001346.3

p.V314delFs

c.940delC

1 paper

NM_001346.3

p.H310H

c.930C>T

1 paper

NM_001346.3

p.G332S

c.994G>A

2 papers

NM_001346.3

p.V295I

c.883G>A

1 paper

NM_001346.3

p.C285*

c.855C>A

1 paper

NM_001346.3

p.W339*

c.1016G>A

1 paper

NM_001346.3

p.W339*

c.1017G>A