Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Y191*

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
1 paper
NM_000237.3
p.Y191*
c.573T>A
Surrounding Variants
2 papers
NM_000237.3
p.Y191*
c.573T>G
1 paper
NM_000237.3
p.Y191F
c.572A>T
1 paper
NM_000237.3
p.Y191H
c.571T>C
1 paper
NM_000237.3
p.Y191D
c.571T>G
2 papers
NM_000237.3
p.E190G
c.569A>G
1 paper
NM_000237.3
p.E190delFs
c.570delG
1 paper
NM_000237.3
p.E193*
c.577G>T
1 paper
NM_000237.3
p.E190K
c.568G>A
1 paper
NM_000237.3
p.F189L
c.567T>A
1 paper
NM_000237.3
p.F189L
c.567T>G
1 paper
NM_000237.3
p.A194G
c.581C>G
1 paper
NM_000237.3
p.F189L
c.565T>C
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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."