Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.T265Splc

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.T265Splc
c.793+1G>T
Surrounding Variants
1 paper
NM_006033.4
p.A262V
c.785C>T
1 paper
NM_006033.4
p.D256N
c.766G>A
1 paper
NM_006033.4
p.N255D
c.763A>G
1 paper
NM_006033.4
p.G253A
c.758G>C
1 paper
NM_006033.4
p.Q249L
c.746A>T
1 paper
NM_006033.4
p.D240V
c.719A>T
3 papers
NM_006033.4
p.I239T
c.716T>C
2 papers
NM_006033.4
p.R224H
c.671G>A
1 paper
NM_006033.4
p.T221I
c.662C>T
2 papers
NM_006033.4
p.H220Q
c.660C>A
2 papers
NM_006033.4
p.H220Q
c.660C>G
1 paper
NM_006033.4
p.L219R
c.656T>G
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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."