Varaico: Literature-Extracted Genetic Variants

DGKK

46 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. V...

Pfam Domains

PHaa 217–309UCSCPH domain

C1_1aa 399–452UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 491–614UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 857–1014UCSCDiacylglycerol kinase accessory domain

DGKD_4Haa 1068–1195UCSCDiacylglycerol kinase delta, helical domain

Gene Aliases

HGNC Name

diacylglycerol kinase kappa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013742.4

p.L656F

c.1968G>T

Surrounding Variants

1 paper

NM_001013742.4

p.L656F

c.1968G>C

1 paper

NM_001013742.4

p.K771R

c.2312A>G

1 paper

NM_001013742.4

p.D581V

c.1742A>T

1 paper

NM_001013742.4

p.V553V

c.1659G>A

1 paper

NM_001013742.4

p.R818C

c.2452C>T

1 paper

NM_001013742.4

p.F522F

c.1566C>T

1 paper

NM_001013742.4

p.F508del1

c.1522_1523delGAA

1 paper

NM_001013742.4

p.D502N

c.1504G>A