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.V43I

c.127G>A

Surrounding Variants

1 paper

NM_001345.5

p.G45*

c.133G>T

1 paper

NM_001345.5

p.E38K

c.112G>A

1 paper

NM_001345.5

p.D29G

c.86A>G

1 paper

NM_001345.5

p.V27L

c.79G>C

1 paper

NM_001345.5

p.K26N

c.78G>C

1 paper

NM_001345.5

p.K26N

c.78G>T

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.F56V

c.166T>G

1 paper

NM_001345.5

p.A73S

c.217G>T

1 paper

NM_001345.5

p.G81D

c.242G>A

1 paper

NM_001345.5

p.H82R

c.245A>G