Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S286_K287delFs

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.S286_K287delFs
c.858_861del4
Surrounding Variants
1 paper
NM_000237.3
p.P285L
c.854C>T
2 papers
NM_000237.3
p.P285A
c.853C>G
9 papers
NM_000237.3
p.S286R
c.856A>C
5 papers
NM_000237.3
p.S286G
c.856A>G
1 paper
NM_000237.3
p.S286fs
c.856_857fs
1 paper
NM_000237.3
p.N284S
c.851A>G
1 paper
NM_000237.3
p.S286N
c.857G>A
10 papers
NM_000237.3
p.S286R
c.858T>A
9 papers
NM_000237.3
p.S286R
c.858T>G
1 paper
NM_000237.3
p.K287_A288del2
c.859_863del6
1 paper
NM_000237.3
p.K287_Y289del3
c.859_866del9
1 paper
NM_000237.3
p.E283G
c.848A>G
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