Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.D386Y

AGK

139 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic a...

Pfam Domains

DAGK_cataa 62–195UCSCDiacylglycerol kinase catalytic domain
AGK_Caa 206–350UCSCAcylglycerol kinase C-terminal

Gene Aliases

HGNC Name

acylglycerol kinase

HGNC Previous Symbol

MULK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018238.4
p.D386Y
c.1156G>T
Surrounding Variants
9 papers
NM_018238.4
p.Y390*
c.1170T>A
7 papers
NM_018238.4
p.Y390*
c.1170T>G
5 papers
NM_018238.4
p.G380fs
c.1138_1139fs
7 papers
NM_018238.4
p.A379_G381delFs
c.1137_1143del7
8 papers
NM_018238.4
p.Q405*
c.1213C>T
4 papers
NM_018238.4
p.Q405insFs
c.1215dupG
4 papers
NM_018238.4
p.F406fs
c.1216_1217fs
1 paper
NM_018238.4
p.F406Y
c.1217T>A
1 paper
NM_018238.4
p.M416delFs
c.1247delT
1 paper
NM_018238.4
p.L417L
c.1251C>T
9 papers
NM_018238.4
p.E377_G378Splc
c.1131+5G>A
3 papers
NM_018238.4
p.E377_G378Splc
c.1131+2T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."