Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.H76R

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.H76R
c.227A>G
Surrounding Variants
1 paper
NM_139248.3
p.V75delFs
c.223delC
1 paper
NM_139248.3
p.T68_K69ins4
c.202_206ins12
2 papers
NM_139248.3
p.N58_A61delFs
c.172_181del10
1 paper
NM_139248.3
p.S59_S60del2
c.175_179del6
5 papers
NM_139248.3
p.S60*
c.179C>G
4 papers
NM_139248.3
p.S60*
c.179C>A
1 paper
NM_139248.3
p.N58_S59delFs
c.172_175del4
2 papers
NM_139248.3
p.A54insFs
c.160_161insA
1 paper
NM_139248.3
p.T47I
c.140C>T
16 papers
NM_139248.3
p.W108R
c.322T>C
12 papers
NM_139248.3
p.W108R
c.322T>A
1 paper
NM_139248.3
p.V105_N109delFs
c.313_326del14
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