Varaico: Literature-Extracted Genetic Variants

DGKB

116 papers

RefSeq Summary

Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes hav...

Pfam Domains

DAG_kinase_Naa 6–117UCSCDiacylglycerol kinase N-terminus

DAG_kinase_Naa 104–149UCSCDiacylglycerol kinase N-terminus

EF-hand_7aa 151–222UCSCEF-hand domain pair

C1_1aa 245–297UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 310–361UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 430–551UCSCDiacylglycerol kinase catalytic domain

Gene Aliases

HGNC Name

diacylglycerol kinase beta

HGNC Previous Symbol

DAGK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001350709.2

p.S25A

c.73T>G

Surrounding Variants

1 paper

NM_001350709.2

p.S25C

c.74C>G

1 paper

NM_001350709.2

p.E35G

c.104A>G

1 paper

NM_001350709.2

p.P47fs

c.139_140fs