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

1–12 of 81 variants

2 papers

NM_001345.5

p.K137R

c.410A>G

2 papers

NM_001345.5

p.W302C

c.906G>C

2 papers

NM_001345.5

p.W302C

c.906G>T

2 papers

NM_001345.5

p.V379I

c.1135G>A

2 papers

NM_001345.5

p.I521V

c.1561A>G

2 papers

NM_001345.5

p.P723fs

c.2167_2168fs

2 papers

NM_001345.5

p.P724insFs

c.2170_2171insC

1 paper

NM_001345.5

p.Y22C

c.65A>G

1 paper

NM_001345.5

p.Y22Splc

c.64+183C>G

1 paper

NM_001345.5

p.Y22C

c.65A>G

1 paper

NM_001345.5

p.K26N

c.78G>C

1 paper

NM_001345.5

p.K26N

c.78G>T