Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.W91_L95del5

LPL

1,048 papers

RefSeq Summary

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor f...

Pfam Domains

Lipaseaa 17–338UCSCLipase
PLATaa 343–463UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

lipoprotein lipase

HGNC Previous Symbol

LIPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000237.3
p.W91_L95del5
c.271_284del15
Surrounding Variants
1 paper
NM_000237.3
p.S90delFs
c.270delT
1 paper
NM_000237.3
p.S90_W91insG
c.268_272ins3
1 paper
NM_000237.3
p.S90G
c.268A>G
1 paper
NM_000237.3
p.E89D
c.267G>C
1 paper
NM_000237.3
p.E89D
c.267G>T
1 paper
NM_000237.3
p.S90_V92del3
c.268_275del9
9 papers
NM_000237.3
p.W91*
c.272G>A
1 paper
NM_000237.3
p.W91S
c.272G>C
1 paper
NM_000237.3
p.V92_V96del5
c.274_287del15
8 papers
NM_000237.3
p.W91*
c.273G>A
6 papers
NM_000237.3
p.Y88*
c.264T>A
4 papers
NM_000237.3
p.Y88*
c.264T>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."