Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R32fs

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.R32fs
c.94_95fs
Surrounding Variants
1 paper
NM_000237.3
p.R32*
c.94A>T
1 paper
NM_000237.3
p.R32_D33insFs
c.96_97insGT
1 paper
NM_000237.3
p.R32R
c.96A>G
1 paper
NM_000237.3
p.R31T
c.92G>C
1 paper
NM_000237.3
p.R31G
c.91A>G
1 paper
NM_000237.3
p.R31fs
c.91_92fs
1 paper
NM_000237.3
p.Q30_R31insFs
c.90_91insG
1 paper
NM_000237.3
p.D33insFs
c.98_99insTG
12 papers
NM_000237.3
p.D33V
c.98A>T
5 papers
NM_000237.3
p.R32_D33delFs
c.94_98del5
1 paper
NM_000237.3
p.Q30R
c.89A>G
1 paper
NM_000237.3
p.Q30_R31del1
c.90_92delAAG
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