Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A125T

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
6 papers
NM_000237.3
p.A125T
c.373G>A
Surrounding Variants
3 papers
NM_000237.3
p.A125fs
c.373_374fs
2 papers
NM_000237.3
p.A125insFs
c.373dupG
1 paper
NM_000237.3
p.A125V
c.374C>T
2 papers
NM_000237.3
p.S124Y
c.371C>A
2 papers
NM_000237.3
p.S124P
c.370T>C
2 papers
NM_000237.3
p.V123V
c.369G>A
1 paper
NM_000237.3
p.G126ins2
c.377_378ins6
1 paper
NM_000237.3
p.G126G
c.378C>T
1 paper
NM_000237.3
p.V123A
c.368T>C
2 papers
NM_000237.3
p.Y127fs
c.379_380fs
4 papers
NM_000237.3
p.T128A
c.382A>G
1 paper
NM_000237.3
p.T128insFs
c.383_384insA
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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."