Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.F318Y

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
1 paper
NM_139248.3
p.F318Y
c.953T>A
Surrounding Variants
4 papers
NM_139248.3
p.P311delFs
c.932delG
2 papers
NM_139248.3
p.P325S
c.973C>T
2 papers
NM_139248.3
p.P311fs
c.931_932fs
1 paper
NM_139248.3
p.D310delFs
c.928delC
1 paper
NM_139248.3
p.D310fs
c.928_929fs
3 papers
NM_139248.3
p.M328Splc
c.982+2T>A
8 papers
NM_139248.3
p.M328Splc
c.982+5G>T
2 papers
NM_139248.3
p.M328Splc
c.982+12A>G
3 papers
NM_139248.3
p.G296V
c.887G>T
1 paper
NM_139248.3
p.G296C
c.886G>T
1 paper
NM_139248.3
p.T286M
c.857C>T
1 paper
NM_139248.3
p.P269S
c.805C>T
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