Varaico: Literature-Extracted Genetic Variants

Gene:PON1
Variant:p.M127R
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PON1

NM_000446.7:p.M127R

Associated Papers

Dantrolene is an HDL-associated paraoxonase-1 activator with immunosuppressive and atheroprotective properties.

Dedemadi AG et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025

A Case-Control Study Supports Genetic Contribution of the PON Gene Family in Obesity and Metabolic Dysfunction Associated Steatotic Liver Disease.

Van Dijck E et al.

Antioxidants (basel, Switzerland), 2024

39334710 (PubMed )
Supplement: antioxidants-13-01051-s001.zip › antioxidants-3169066-supplementary.pdf

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Bonnard C et al.

The Journal of Experimental Medicine, 2020

32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

Bacchelli E et al.

Scientific Reports, 2020

32081867 (PubMed )
Supplement: 41598_2020_59922_MOESM2_ESM.xlsx › Table_S6

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B

Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

Barber LJ et al.

Plos One, 2011

21750719 (PubMed )
Supplement: pone.0021639.s006.xls › Sheet1

Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Ticozzi N et al.

Annals of Neurology, 2010

Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

Pauer GJ et al.

American Journal of Ophthalmology, 2010

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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."