Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.I232S

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
3 papers
NM_000237.3
p.I232S
c.695T>G
Surrounding Variants
1 paper
NM_000237.3
p.D231E
c.693C>A
2 papers
NM_000237.3
p.D231E
c.693C>G
1 paper
NM_000237.3
p.Y233D
c.697T>G
3 papers
NM_000237.3
p.Y233C
c.698A>G
1 paper
NM_000237.3
p.Y233*
c.699C>G
1 paper
NM_000237.3
p.D231N
c.691G>A
1 paper
NM_000237.3
p.P234S
c.700C>T
31 papers
NM_000237.3
p.P234L
c.701C>T
1 paper
NM_000237.3
p.V230A
c.689T>C
1 paper
NM_000237.3
p.V230fs
c.688_689fs
2 papers
NM_000237.3
p.H229H
c.687T>C
1 paper
NM_000237.3
p.V230delFs
c.688delG
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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."