Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V206L

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.V206L
c.616G>C
Surrounding Variants
1 paper
NM_000237.3
p.V206L
c.616G>T
1 paper
NM_000237.3
p.V206fs
c.616_617fs
1 paper
NM_000237.3
p.V206_T211delFs
c.617_632del16
1 paper
NM_000237.3
p.F205L
c.615T>A
7 papers
NM_000237.3
p.V206A
c.617T>C
1 paper
NM_000237.3
p.V206V
c.618A>T
1 paper
NM_000237.3
p.D207V
c.620A>T
11 papers
NM_000237.3
p.D204E
c.612T>A
11 papers
NM_000237.3
p.D204E
c.612T>G
2 papers
NM_000237.3
p.D207E
c.621C>A
3 papers
NM_000237.3
p.D207E
c.621C>G
3 papers
NM_000237.3
p.V208I
c.622G>A
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