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.E675K

c.2023G>A

Surrounding Variants

2 papers

NM_001350709.2

p.S681N

c.2042G>A

1 paper

NM_001350709.2

p.R684*

c.2050C>T

1 paper

NM_001350709.2

p.R684Q

c.2051G>A

1 paper

NM_001350709.2

p.K692E

c.2074A>G

1 paper

NM_001350709.2

p.G657delFs

c.1969delC

1 paper

NM_001350709.2

p.K703E

c.2107A>G