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

2 papers

NM_001345.5

p.I521V

c.1561A>G

Surrounding Variants

1 paper

NM_001345.5

p.Y524C

c.1571A>G

1 paper

NM_001345.5

p.P517S

c.1549C>T

1 paper

NM_001345.5

p.S526T

c.1576T>A

1 paper

NM_001345.5

p.D514G

c.1541A>G

1 paper

NM_001345.5

p.P506fs

c.1516_1517fs

1 paper

NM_001345.5

p.R536Q

c.1607G>A

1 paper

NM_001345.5

p.P545S

c.1633C>T

1 paper

NM_001345.5

p.F548L

c.1642T>C

1 paper

NM_001345.5

p.F548L

c.1644C>A

1 paper

NM_001345.5

p.F548L

c.1644C>G

1 paper

NM_001345.5

p.Y558H

c.1672T>C

1 paper

NM_001345.5

p.E576K

c.1726G>A