Varaico: Literature-Extracted Genetic Variants

Gene:LIPG

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
1–12 of 131 variants
63 papers
NM_006033.4
p.N396S
c.1187A>G
56 papers
NM_006033.4
p.T111I
c.332C>T
49 papers
NM_006033.4
p.A195V
c.584C>T
9 papers
NM_006033.4
p.G26S
c.76G>A
9 papers
NM_006033.4
p.R476W
c.1426C>T
6 papers
NM_006033.4
p.T298S
c.892A>T
6 papers
NM_006033.4
p.T298S
c.893C>G
3 papers
NM_006033.4
p.P73L
c.218C>T
3 papers
NM_006033.4
p.A116T
c.346G>A
3 papers
NM_006033.4
p.G196R
c.586G>A
3 papers
NM_006033.4
p.G196R
c.586G>C
3 papers
NM_006033.4
p.P210Q
c.629C>A
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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."