Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A185S

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
9 papers
NM_000237.3
p.A185S
c.553G>T
Surrounding Variants
5 papers
NM_000237.3
p.A185T
c.553G>A
3 papers
NM_000237.3
p.P184R
c.551C>G
5 papers
NM_000237.3
p.G186E
c.557G>A
4 papers
NM_000237.3
p.D183G
c.548A>G
1 paper
NM_000237.3
p.D183V
c.548A>T
1 paper
NM_000237.3
p.P187S
c.559C>T
6 papers
NM_000237.3
p.D183N
c.547G>A
5 papers
NM_000237.3
p.D183H
c.547G>C
1 paper
NM_000237.3
p.L182fs
c.544_545fs
1 paper
NM_000237.3
p.N188I
c.563A>T
1 paper
NM_000237.3
p.L182insFs
c.544_545ins5
2 papers
NM_000237.3
p.F189delFs
c.566_567delTT
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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."