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.E1079*

c.3235G>T

Surrounding Variants

1 paper

NM_178009.5

p.P1076S

c.3226C>T

1 paper

NM_178009.5

p.E1091G

c.3272A>G

1 paper

NM_178009.5

p.V1130A

c.3389T>C

1 paper

NM_178009.5

p.P1131delFs

c.3392_3393delCA

1 paper

NM_178009.5

p.P1131fs

c.3391_3392fs

1 paper

NM_178009.5

p.K1132_F1133insFs

c.3396_3397ins8

1 paper

NM_178009.5

p.F1133fs

c.3397_3398fs

1 paper

NM_178009.5

p.E1155insFs

c.3464dupA

2 papers

NM_178009.5

p.R1174C

c.3520C>T

1 paper

NM_178009.5

p.R1174H

c.3521G>A

1 paper

NM_178009.5

p.E1186G

c.3557A>G

2 papers

NM_178009.5

p.R1068S

c.3204G>C