Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.T83M

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.T83M
c.248C>T
Surrounding Variants
1 paper
NM_000237.3
p.T83T
c.249G>A
9 papers
NM_000237.3
p.T83_V84Splc
c.249+1G>A
1 paper
NM_000237.3
p.W82*
c.246G>A
2 papers
NM_000237.3
p.T83_V84Splc
c.249+1G>C
3 papers
NM_000237.3
p.W82*
c.245G>A
1 paper
NM_000237.3
p.W82_T83delFs
c.246_249del4
1 paper
NM_000237.3
p.G81G
c.243C>A
8 papers
NM_000237.3
p.G81D
c.242G>A
1 paper
NM_000237.3
p.T83_V84Splc
c.249+5G>C
2 papers
NM_000237.3
p.G81R
c.241G>C
1 paper
NM_000237.3
p.T83_V84Splc
c.249+7G>C
4 papers
NM_000237.3
p.H80R
c.239A>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."