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.G727V

c.2180G>T

Surrounding Variants

1 paper

NM_178009.5

p.I732M

c.2196T>G

1 paper

NM_178009.5

p.R689W

c.2065C>T

1 paper

NM_178009.5

p.R684W

c.2050C>T

1 paper

NM_178009.5

p.A854S

c.2560G>T

1 paper

NM_178009.5

p.F859delFs

c.2575delT

1 paper

NM_178009.5

p.D641A

c.1922A>C

1 paper

NM_178009.5

p.S623_L624ins8

c.1867_1871ins24

1 paper

NM_178009.5

p.S586L

c.1757C>T