Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P104R

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.P104R
c.311C>G
Surrounding Variants
4 papers
NM_000237.3
p.P104delFs
c.312delA
1 paper
NM_000237.3
p.D105N
c.313G>A
3 papers
NM_000237.3
p.D105fs
c.313_314fs
1 paper
NM_000237.3
p.D105_S106insFs
c.315_316insC
1 paper
NM_000237.3
p.E103G
c.308A>G
1 paper
NM_000237.3
p.D105E
c.315C>A
1 paper
NM_000237.3
p.D105E
c.315C>G
7 papers
NM_000237.3
p.R102S
c.306A>C
6 papers
NM_000237.3
p.R102S
c.306A>T
1 paper
NM_000237.3
p.R102K
c.305G>A
2 papers
NM_000237.3
p.R102T
c.305G>C
1 paper
NM_000237.3
p.R102I
c.305G>T
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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."