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

1–12 of 99 variants

2 papers

NM_001346.3

p.T142S

c.424A>T

2 papers

NM_001346.3

p.T142S

c.425C>G

2 papers

NM_001346.3

p.V295I

c.883G>A

2 papers

NM_001346.3

p.V314fs

c.940_941fs

2 papers

NM_001346.3

p.F508del1

c.1522_1523delAAA

2 papers

NM_001346.3

p.R681Q

c.2042G>A

2 papers

NM_001346.3

p.E706K

c.2116G>A

1 paper

NM_001346.3

p.R5W

c.13C>T

1 paper

NM_001346.3

p.D15E

c.45C>G

1 paper

NM_001346.3

p.D15E

c.45C>A

1 paper

NM_001346.3

p.Y20H

c.58T>C

1 paper

NM_001346.3

p.Q43K

c.127C>A