Varaico: Literature-Extracted Genetic Variants

DGKI

79 papers

RefSeq Summary

This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphat...

Pfam Domains

C1_1aa 251–310UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

DAGK_cataa 376–497UCSCDiacylglycerol kinase catalytic domain

DAGK_accaa 526–683UCSCDiacylglycerol kinase accessory domain

DGKIaa 743–867UCSCDiacylglycerol kinase iota-like domain

Ank_2aa 943–1038UCSCAnkyrin repeats (3 copies)

Ankaa 950–983UCSCAnkyrin repeat

Gene Aliases

HGNC Name

diacylglycerol kinase iota

HGNC Alias Symbol

DGK-IOTA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 96 variants

2 papers

NM_001321708.2

p.E84K

c.250G>A

2 papers

NM_001321708.2

p.R723C

c.2167C>T

2 papers

NM_001321708.2

p.D972N

c.2914G>A

1 paper

NM_001321708.2

p.A3V

c.8C>T

1 paper

NM_001321708.2

p.A31del1

c.91_93delGGC

1 paper

NM_001321708.2

p.A41T

c.121G>A

1 paper

NM_001321708.2

p.A52D

c.155C>A

1 paper

NM_001321708.2

p.A59T

c.175G>A

1 paper

NM_001321708.2

p.S71G

c.211A>G

1 paper

NM_001321708.2

p.S72G

c.214A>G

1 paper

NM_001321708.2

p.G75V

c.224G>T

1 paper

NM_001321708.2

p.A92S

c.274G>T