Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.G349Splc

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.G349Splc
c.1047-2A>G
Surrounding Variants
4 papers
NM_018238.4
p.G349Splc
c.1047-2A>T
4 papers
NM_018238.4
p.S350fs
c.1048_1049fs
1 paper
NM_018238.4
p.S350N
c.1049G>A
1 paper
NM_018238.4
p.S369G
c.1105A>G
1 paper
NM_018238.4
p.C371*
c.1113C>A
1 paper
NM_018238.4
p.P376L
c.1127C>T
11 papers
NM_018238.4
p.E377_G378Splc
c.1131+1G>T
3 papers
NM_018238.4
p.E377_G378Splc
c.1131+2T>C
9 papers
NM_018238.4
p.E377_G378Splc
c.1131+5G>A
7 papers
NM_018238.4
p.A379_G381delFs
c.1137_1143del7
5 papers
NM_018238.4
p.G380fs
c.1138_1139fs
1 paper
NM_018238.4
p.D386Y
c.1156G>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."