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.V395_N396Splc

c.1186-1G>T

Surrounding Variants

1 paper

NM_001013742.4

p.T436T

c.1308G>C

1 paper

NM_001013742.4

p.C377*

c.1131C>A

1 paper

NM_001013742.4

p.S335R

c.1005C>G

1 paper

NM_001013742.4

p.S335R

c.1005C>A

1 paper

NM_001013742.4

p.S335R

c.1003A>C

1 paper

NM_001013742.4

p.D502N

c.1504G>A

1 paper

NM_001013742.4

p.F508del1

c.1522_1523delGAA