Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.F295L

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.F295L
c.883T>C
Surrounding Variants
1 paper
NM_006033.4
p.F295L
c.885C>A
1 paper
NM_006033.4
p.F295L
c.885C>G
6 papers
NM_006033.4
p.T298S
c.892A>T
6 papers
NM_006033.4
p.T298S
c.893C>G
1 paper
NM_006033.4
p.T298I
c.893C>T
1 paper
NM_006033.4
p.D299G
c.896A>G
1 paper
NM_006033.4
p.D289E
c.867C>A
1 paper
NM_006033.4
p.D289E
c.867C>G
1 paper
NM_006033.4
p.D289fs
c.865_866fs
1 paper
NM_006033.4
p.N301N
c.903T>C
1 paper
NM_006033.4
p.D289_S292delFs
c.865_875del11
1 paper
NM_006033.4
p.N287Y
c.859A>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."