Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.R281*

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
10 papers
NM_018238.4
p.R281*
c.841C>T
Surrounding Variants
2 papers
NM_018238.4
p.R282W
c.844A>T
1 paper
NM_018238.4
p.R282fs
c.844_845fs
1 paper
NM_018238.4
p.A284V
c.851C>T
1 paper
NM_018238.4
p.S274_L280delFs
c.821_840del20
7 papers
NM_018238.4
p.P290delFs
c.870delA
6 papers
NM_018238.4
p.Q291*
c.871C>T
6 papers
NM_018238.4
p.Q291fs
c.871_872fs
4 papers
NM_018238.4
p.T268N
c.803C>A
7 papers
NM_018238.4
p.A293Splc
c.877+3G>T
1 paper
NM_018238.4
p.E259insFs
c.776_777insG
1 paper
NM_018238.4
p.T258I
c.773C>T
1 paper
NM_018238.4
p.P257H
c.770C>A
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