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.R262G

c.784C>G

Surrounding Variants

1 paper

NM_001345.5

p.H270R

c.809A>G

1 paper

NM_001345.5

p.Y292C

c.875A>G

1 paper

NM_001345.5

p.T296A

c.886A>G

2 papers

NM_001345.5

p.W302C

c.906G>C

2 papers

NM_001345.5

p.W302C

c.906G>T

1 paper

NM_001345.5

p.C321fs

c.961_962fs

1 paper

NM_001345.5

p.R325Q

c.974G>A

1 paper

NM_001345.5

p.S225R

c.675C>A

1 paper

NM_001345.5

p.S225R

c.675C>G

1 paper

NM_001345.5

p.S225R

c.673A>C

1 paper

NM_001345.5

p.P216R

c.647C>G

1 paper

NM_001345.5

p.L360*

c.1079T>A