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.A1014insFs

c.3041_3042insC

Surrounding Variants

1 paper

NM_001013742.4

p.A1014fs

c.3040_3041fs

2 papers

NM_001013742.4

p.G1020_L1021insFs

c.3060_3061insC

1 paper

NM_001013742.4

p.L1021fs

c.3061_3062fs

1 paper

NM_001013742.4

p.E995K

c.2983G>A

1 paper

NM_001013742.4

p.D1118N

c.3352G>A

1 paper

NM_001013742.4

p.K1166N

c.3498G>T

1 paper

NM_001013742.4

p.K1166N

c.3498G>C

1 paper

NM_001013742.4

p.R818C

c.2452C>T

1 paper

NM_001013742.4

p.F1188F

c.3564C>T

1 paper

NM_001013742.4

p.E1204_E1205Splc

c.3613-12G>T

1 paper

NM_001013742.4

p.K771R

c.2312A>G

1 paper

NM_001013742.4

p.H1250Y

c.3748C>T