Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.E141_A142Splc

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
9 papers
NM_018238.4
p.E141_A142Splc
c.424-1G>A
Surrounding Variants
7 papers
NM_018238.4
p.A142fs
c.424_425fs
17 papers
NM_018238.4
p.E141_A142Splc
c.424-3C>G
1 paper
NM_018238.4
p.K146R
c.437A>G
1 paper
NM_018238.4
p.P153_E156del4
c.457_467del12
1 paper
NM_018238.4
p.E156K
c.466G>A
1 paper
NM_018238.4
p.E167K
c.499G>A
7 papers
NM_018238.4
p.Q173*
c.517C>T
5 papers
NM_018238.4
p.Q173Splc
c.518+1G>A
1 paper
NM_018238.4
p.E141*
c.421G>T
1 paper
NM_018238.4
p.T139R
c.416C>G
9 papers
NM_018238.4
p.R138*
c.412C>T
12 papers
NM_018238.4
p.R137*
c.409C>T
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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."