Varaico: Literature-Extracted Genetic Variants

Gene:PON1

PON1

1,294 papers

RefSeq Summary

This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circul...

Pfam Domains

Arylesteraseaa 168–253UCSCArylesterase

Gene Aliases

HGNC Name

paraoxonase 1

HGNC Alias Names

esterase A; arylesterase 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 277 variants
956 papers
NM_000446.7
p.Q192R
c.575A>G
568 papers
NM_000446.7
p.L55M
c.163T>A
147 papers
NM_000446.7
p.P36P
c.108C>T
32 papers
NM_000446.7
p.P36L
c.107C>T
27 papers
NM_000446.7
p.E303D
c.909G>C
21 papers
NM_000446.7
p.I102V
c.304A>G
18 papers
NM_000446.7
p.R160G
c.478A>G
13 papers
NM_000446.7
p.A201V
c.602C>T
11 papers
NM_000446.7
p.H115Q
c.345T>G
11 papers
NM_000446.7
p.H115Q
c.345T>A
11 papers
NM_000446.7
p.G278R
c.832G>A
11 papers
NM_000446.7
p.E303Q
c.907G>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."