Varaico: Literature-Extracted Genetic Variants

Gene:PNLIP
Variant:p.N162N

PNLIP

159 papers

RefSeq Summary

This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient dige...

Pfam Domains

Lipaseaa 17–352UCSCLipase
PLATaa 357–463UCSCPLAT/LH2 domain

Gene Aliases

HGNC Name

pancreatic lipase

HGNC Alias Symbol

PL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000936.4
p.N162N
c.486T>C
Surrounding Variants
3 papers
NM_000936.4
p.V163M
c.487G>A
1 paper
NM_000936.4
p.V165F
c.493G>T
1 paper
NM_000936.4
p.H168Y
c.502C>T
1 paper
NM_000936.4
p.F156F
c.468C>T
1 paper
NM_000936.4
p.H173P
c.518A>C
2 papers
NM_000936.4
p.A174T
c.520G>A
5 papers
NM_000936.4
p.A174P
c.520G>C
1 paper
NM_000936.4
p.G176V
c.527G>T
1 paper
NM_000936.4
p.E177K
c.529G>A
1 paper
NM_000936.4
p.G184E
c.551G>A
4 papers
NM_000936.4
p.I186T
c.557T>C
3 papers
NM_000936.4
p.R188C
c.562C>T
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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."