Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.H248Q

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.H248Q
c.744C>A
Surrounding Variants
35 papers
NM_139248.3
p.H248N
c.742C>A
42 papers
NM_139248.3
p.C246S
c.737G>C
45 papers
NM_139248.3
p.C246S
c.736T>A
1 paper
NM_139248.3
p.Y255delFs
c.763delA
5 papers
NM_139248.3
p.R260*
c.778A>T
1 paper
NM_139248.3
p.P269S
c.805C>T
1 paper
NM_139248.3
p.T286M
c.857C>T
1 paper
NM_139248.3
p.G296C
c.886G>T
3 papers
NM_139248.3
p.G296V
c.887G>T
1 paper
NM_139248.3
p.D310fs
c.928_929fs
1 paper
NM_139248.3
p.D310delFs
c.928delC
2 papers
NM_139248.3
p.P311fs
c.931_932fs
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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."