Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.I204I

LIPG

250 papers

RefSeq Summary

The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family ...

Pfam Domains

Lipaseaa 15–194UCSCLipase
PLATaa 275–407UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

lipase G, endothelial type

HGNC Alias Symbol

EDL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006033.4
p.I204I
c.612C>A
Surrounding Variants
1 paper
NM_006033.4
p.H205R
c.614A>G
1 paper
NM_006033.4
p.D203G
c.608A>G
1 paper
NM_006033.4
p.L208F
c.622C>T
1 paper
NM_006033.4
p.E200K
c.598G>A
3 papers
NM_006033.4
p.P210Q
c.629C>A
1 paper
NM_006033.4
p.D211Y
c.631G>T
1 paper
NM_006033.4
p.D212H
c.634G>C
3 papers
NM_006033.4
p.G196R
c.586G>A
3 papers
NM_006033.4
p.G196R
c.586G>C
1 paper
NM_006033.4
p.A195D
c.584C>A
49 papers
NM_006033.4
p.A195V
c.584C>T
1 paper
NM_006033.4
p.P194S
c.580C>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."