Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.H71delFs

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.H71delFs
c.211delC
Surrounding Variants
1 paper
NM_000237.3
p.N70T
c.209A>C
9 papers
NM_000237.3
p.N70S
c.209A>G
1 paper
NM_000237.3
p.H71Y
c.211C>T
1 paper
NM_000237.3
p.S72_T75delFs
c.214_224del11
3 papers
NM_000237.3
p.N70D
c.208A>G
3 papers
NM_000237.3
p.H71Q
c.213C>A
2 papers
NM_000237.3
p.F69L
c.207C>G
2 papers
NM_000237.3
p.H71Q
c.213C>G
2 papers
NM_000237.3
p.S72G
c.214A>G
1 paper
NM_000237.3
p.S72fs
c.214_215fs
2 papers
NM_000237.3
p.S72N
c.215G>A
2 papers
NM_000237.3
p.S72T
c.215G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."