Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A248P

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.A248P
c.742G>C
Surrounding Variants
1 paper
NM_000237.3
p.A248T
c.742G>A
2 papers
NM_000237.3
p.A248fs
c.742_743fs
3 papers
NM_000237.3
p.A248delFs
c.742delG
1 paper
NM_000237.3
p.A248V
c.743C>T
2 papers
NM_000237.3
p.I249T
c.746T>C
1 paper
NM_000237.3
p.R250C
c.748C>T
2 papers
NM_000237.3
p.R250H
c.749G>A
1 paper
NM_000237.3
p.G246_I249del4
c.736_746del12
2 papers
NM_000237.3
p.I245T
c.734T>C
1 paper
NM_000237.3
p.I245S
c.734T>G
1 paper
NM_000237.3
p.V251M
c.751G>A
1 paper
NM_000237.3
p.V251_I252delFs
c.753_756del4
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