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

1–12 of 65 variants

2 papers

NM_001350709.2

p.P12A

c.34C>G

2 papers

NM_001350709.2

p.S681N

c.2042G>A

1 paper

NM_001350709.2

p.H9R

c.26A>G

1 paper

NM_001350709.2

p.S11I

c.32G>T

1 paper

NM_001350709.2

p.E23K

c.67G>A

1 paper

NM_001350709.2

p.S25A

c.73T>G

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

1 paper

NM_001350709.2

p.Q56_T57Splc

c.169-5T>G

1 paper

NM_001350709.2

p.K64I

c.191A>T

1 paper

NM_001350709.2

p.E72K

c.214G>A