Varaico: Literature-Extracted Genetic Variants

DGKA

71 papers

RefSeq Summary

The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracell...

Pfam Domains

DAG_kinase_Naa 4–92UCSCDiacylglycerol kinase N-terminus

DAG_kinase_Naa 84–110UCSCDiacylglycerol kinase N-terminus

C1_1aa 206–257UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C1_1aa 270–322UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 376–498UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 520–701UCSCDiacylglycerol kinase accessory domain

Gene Aliases

HGNC Name

diacylglycerol kinase alpha

HGNC Previous Symbols

DAGK; DAGK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001345.5

p.R726G

c.2176C>G

Surrounding Variants

1 paper

NM_001345.5

p.R726fs

c.2176_2177fs

1 paper

NM_001345.5

p.P724P

c.2172C>G

1 paper

NM_001345.5

p.P724fs

c.2170_2171fs

2 papers

NM_001345.5

p.P724insFs

c.2170_2171insC

1 paper

NM_001345.5

p.P723_P724insFs

c.2169_2170insCC

1 paper

NM_001345.5

p.P724delFs

c.2170delC

2 papers

NM_001345.5

p.P723fs

c.2167_2168fs

1 paper

NM_001345.5

p.F730L

c.2188T>C

1 paper

NM_001345.5

p.F730L

c.2190C>A

1 paper

NM_001345.5

p.F730L

c.2190C>G

1 paper

NM_001345.5

p.M717I

c.2151G>A

1 paper

NM_001345.5

p.M717I

c.2151G>C