Varaico: Literature-Extracted Genetic Variants

Gene:LIPG
Variant:p.Y131F

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.Y131F
c.392A>T
Surrounding Variants
1 paper
NM_006033.4
p.Y131C
c.392A>G
2 papers
NM_006033.4
p.L130F
c.388C>T
1 paper
NM_006033.4
p.L126insFs
c.376dupC
1 paper
NM_006033.4
p.L124fs
c.370_371fs
1 paper
NM_006033.4
p.W123*
c.368G>A
1 paper
NM_006033.4
p.V120V
c.360G>A
3 papers
NM_006033.4
p.A116T
c.346G>A
1 paper
NM_006033.4
p.D115D
c.345C>T
1 paper
NM_006033.4
p.K114*
c.340A>T
56 papers
NM_006033.4
p.T111I
c.332C>T
1 paper
NM_006033.4
p.L152P
c.455T>C
1 paper
NM_006033.4
p.N100K
c.300C>A
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