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

Selected Variant

1 paper

NM_178009.5

p.Q7E

c.19C>G

Surrounding Variants

1 paper

NM_178009.5

p.H8Q

c.24C>G

2 papers

NM_178009.5

p.M1insFs

c.3dupG

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.A13T

c.37G>A

1 paper

NM_178009.5

p.G16G

c.48A>T

1 paper

NM_178009.5

p.A18G

c.53C>G

1 paper

NM_178009.5

p.S39S

c.117T>G

1 paper

NM_178009.5

p.A43T

c.127G>A

1 paper

NM_178009.5

p.E44K

c.130G>A

1 paper

NM_178009.5

p.Q49H

c.147G>C

1 paper

NM_178009.5

p.Q49H

c.147G>T