Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R270H

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
22 papers
NM_000237.3
p.R270H
c.809G>A
Surrounding Variants
3 papers
NM_000237.3
p.R270L
c.809G>T
1 paper
NM_000237.3
p.R270S
c.808C>A
10 papers
NM_000237.3
p.R270G
c.808C>G
18 papers
NM_000237.3
p.R270C
c.808C>T
1 paper
NM_000237.3
p.S271delFs
c.811delT
4 papers
NM_000237.3
p.S271T
c.811T>A
2 papers
NM_000237.3
p.S271P
c.811T>C
1 paper
NM_000237.3
p.S271fs
c.811_812fs
1 paper
NM_000237.3
p.S271C
c.812C>G
7 papers
NM_000237.3
p.E269K
c.805G>A
3 papers
NM_000237.3
p.H268Q
c.804C>A
2 papers
NM_000237.3
p.H268Q
c.804C>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."