Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.I220delFs

LIPH

120 papers

RefSeq Summary

This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biologi...

Pfam Domains

Lipaseaa 8–326UCSCLipase

Gene Aliases

HGNC Name

lipase H

HGNC Alias Symbols

mPA-PLA1; PLA1B; mPA-PLA1alpha; LPDLR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_139248.3
p.I220delFs
c.659_660delTA
Surrounding Variants
1 paper
NM_139248.3
p.I220R
c.659T>G
2 papers
NM_139248.3
p.I220fs
c.658_659fs
3 papers
NM_139248.3
p.P224R
c.671C>G
1 paper
NM_139248.3
p.L228M
c.682T>A
11 papers
NM_139248.3
p.L228delFs
c.683delA
5 papers
NM_139248.3
p.D229fs
c.685_686fs
3 papers
NM_139248.3
p.D229Fs
c.686delinsGTAGAACCCAACCTGGCTFs
1 paper
NM_139248.3
p.D229Fs
c.686delinsCTAGAACCCAACCTGGCTFs
1 paper
NM_139248.3
p.D229Fs
c.686delinsGTAGAACCCFs
1 paper
NM_139248.3
p.D229insFs
c.686_687ins7
1 paper
NM_139248.3
p.D229insFs
c.685_686ins10
1 paper
NM_139248.3
p.D229fs
c.685_686fs
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