Varaico: Literature-Extracted Genetic Variants

Gene:LIPH
Variant:p.H205R

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
6 papers
NM_139248.3
p.H205R
c.614A>G
Surrounding Variants
1 paper
NM_139248.3
p.Q199_H205delFs
c.595_613del19
8 papers
NM_139248.3
p.D207H
c.619G>C
8 papers
NM_139248.3
p.T208delFs
c.624delA
1 paper
NM_139248.3
p.D207_D209Fs
c.620_627delinsCTCCTTTFs
2 papers
NM_139248.3
p.D207_D209delins
c.620_627delinsCTCCTTTCCTTGTG
1 paper
NM_139248.3
p.P182_D194del0
c.546_581del36
1 paper
NM_139248.3
p.D191delFs
c.572delT
6 papers
NM_139248.3
p.K187*
c.559A>T
5 papers
NM_139248.3
p.G186_K187insFs
c.558_559insT
1 paper
NM_139248.3
p.N185N
c.555C>T
2 papers
NM_139248.3
p.A180G
c.539C>G
4 papers
NM_139248.3
p.L177R
c.530T>G
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