Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A117fs

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.A117fs
c.349_350fs
Surrounding Variants
1 paper
NM_000237.3
p.A117V
c.350C>T
1 paper
NM_000237.3
p.R116_A117ins2
c.348_349ins6
1 paper
NM_000237.3
p.R116_A117insFs
c.348_349ins10
1 paper
NM_000237.3
p.R116_A117insFs
c.348_349ins17
8 papers
NM_000237.3
p.R116Q
c.347G>A
6 papers
NM_000237.3
p.R116P
c.347G>C
1 paper
NM_000237.3
p.R116G
c.346C>G
5 papers
NM_000237.3
p.R116W
c.346C>T
2 papers
NM_000237.3
p.Q118*
c.352C>T
1 paper
NM_000237.3
p.Q118fs
c.352_353fs
1 paper
NM_000237.3
p.R116insFs
c.346dupC
2 papers
NM_000237.3
p.S115S
c.345A>C
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