Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S325R

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.S325R
c.973A>C
Surrounding Variants
1 paper
NM_000237.3
p.S325fs
c.973_974fs
1 paper
NM_000237.3
p.S325delFs
c.973_974delAG
3 papers
NM_000237.3
p.S325R
c.975C>A
4 papers
NM_000237.3
p.S325R
c.975C>G
2 papers
NM_000237.3
p.S326G
c.976A>G
1 paper
NM_000237.3
p.K327_M328del1
c.980_982delAAA
1 paper
NM_000237.3
p.K323_R324ins10
c.967_971ins30
1 paper
NM_000237.3
p.M328_L330del0
c.983_988del6
1 paper
NM_000237.3
p.A322fs
c.964_965fs
6 papers
NM_000237.3
p.M328T
c.983T>C
4 papers
NM_000237.3
p.M328R
c.983T>G
5 papers
NM_000237.3
p.M328I
c.984G>A
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