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

1–12 of 42 variants

2 papers

NM_001013742.4

p.G1020_L1021insFs

c.3060_3061insC

1 paper

NM_001013742.4

p.P13Q

c.38C>A

1 paper

NM_001013742.4

p.W30*

c.89G>A

1 paper

NM_001013742.4

p.W30*

c.90G>A

1 paper

NM_001013742.4

p.P32T

c.94C>A

1 paper

NM_001013742.4

p.P34L

c.101C>T

1 paper

NM_001013742.4

p.E80E

c.240A>G

1 paper

NM_001013742.4

p.A102A

c.306C>G

1 paper

NM_001013742.4

p.A106T

c.316G>A

1 paper

NM_001013742.4

p.P111Q

c.332C>A

1 paper

NM_001013742.4

p.E112A

c.335A>C

1 paper

NM_001013742.4

p.E112E

c.336A>G