Varaico: Literature-Extracted Genetic Variants

Gene:AGK
Variant:p.K99_T100Splc

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
8 papers
NM_018238.4
p.K99_T100Splc
c.297+2T>C
Surrounding Variants
4 papers
NM_018238.4
p.K99N
c.297G>C
6 papers
NM_018238.4
p.K99N
c.297G>T
1 paper
NM_018238.4
p.I97F
c.289A>T
1 paper
NM_018238.4
p.D94V
c.281A>T
1 paper
NM_018238.4
p.H89L
c.266A>T
1 paper
NM_018238.4
p.I87N
c.260T>A
1 paper
NM_018238.4
p.F80Y
c.239T>A
1 paper
NM_018238.4
p.L79I
c.235C>A
3 papers
NM_018238.4
p.K75fs
c.223_224fs
8 papers
NM_018238.4
p.G74Splc
c.221+1G>A
1 paper
NM_018238.4
p.F66fs
c.196_197fs
1 paper
NM_018238.4
p.V65insFs
c.193_194insA
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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."