Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.R442W

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
2 papers
NM_006033.4
p.R442W
c.1324C>T
Surrounding Variants
1 paper
NM_006033.4
p.I446V
c.1336A>G
1 paper
NM_006033.4
p.R448C
c.1342C>T
1 paper
NM_006033.4
p.R448L
c.1343G>T
1 paper
NM_006033.4
p.R450G
c.1348C>G
1 paper
NM_006033.4
p.R450W
c.1348C>T
1 paper
NM_006033.4
p.R431H
c.1292G>A
1 paper
NM_006033.4
p.L426M
c.1276C>A
1 paper
NM_006033.4
p.R458W
c.1372C>T
1 paper
NM_006033.4
p.R458Q
c.1373G>A
1 paper
NM_006033.4
p.E417Q
c.1249G>C
1 paper
NM_006033.4
p.L409F
c.1225C>T
1 paper
NM_006033.4
p.D408G
c.1223A>G
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