Varaico: Literature-Extracted Genetic Variants

DGKH

83 papers

RefSeq Summary

This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Var...

Pfam Domains

PHaa 66–158UCSCPH domain

C1_1aa 176–228UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 248–301UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 332–454UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 770–927UCSCDiacylglycerol kinase accessory domain

DGKD_4Haa 982–1099UCSCDiacylglycerol kinase delta, helical domain

Gene Aliases

HGNC Name

diacylglycerol kinase eta

HGNC Alias Symbol

DGKeta

Papers

RefSeq ID

Protein change

DNA change

1–12 of 80 variants

2 papers

NM_178009.5

p.M1insFs

c.3dupG

2 papers

NM_178009.5

p.L51M

c.151C>A

2 papers

NM_178009.5

p.T533N

c.1598C>A

2 papers

NM_178009.5

p.R1068S

c.3204G>C

2 papers

NM_178009.5

p.R1068S

c.3204G>T

2 papers

NM_178009.5

p.R1174C

c.3520C>T

1 paper

NM_178009.5

p.M1insFs

c.2_3ins26

1 paper

NM_178009.5

p.M1Fs

c.1delinsTTFs

1 paper

NM_178009.5

p.Q7E

c.19C>G

1 paper

NM_178009.5

p.H8Q

c.24C>G

1 paper

NM_178009.5

p.A13T

c.37G>A

1 paper

NM_178009.5

p.G16G

c.48A>T