Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.L132I

LIPA

415 papers

RefSeq Summary

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglyceri...

Pfam Domains

Abhydrolase_1aa 80–381UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

lipase A, lysosomal acid type

HGNC Alias Symbols

LAL; CESD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000235.4
p.L132I
c.394C>A
Surrounding Variants
1 paper
NM_000235.4
p.L132V
c.394C>G
1 paper
NM_000235.4
p.L132P
c.395T>C
1 paper
NM_000235.4
p.S133P
c.397T>C
1 paper
NM_000235.4
p.S133L
c.398C>T
9 papers
NM_000235.4
p.S133*
c.398C>G
10 papers
NM_000235.4
p.S133*
c.398C>A
10 papers
NM_000235.4
p.S133delFs
c.398delG
2 papers
NM_000235.4
p.S133delFs
c.397_398delGA
2 papers
NM_000235.4
p.V134fs
c.400_401fs
1 paper
NM_000235.4
p.V134insFs
c.400dupG
1 paper
NM_000235.4
p.V134G
c.401T>G
10 papers
NM_000235.4
p.H129R
c.386A>G
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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."