PON1 c.*548A>G

Variant ID: 7-94927708-T-C

NM_000446.5(PON1):c.*548A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs3917577
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs3917577
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
View BVdb publication page



GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research
Walther, Barbara B; Lett, Aaron M AM; Bordoni, Alessandra A; Tomás-Cobos, Lidia L; Nieto, Juan Antonio JA; Dupont, Didier D; Danesi, Francesca F; Shahar, Danit R DR; Echaniz, Ana A; Re, Roberta R; Fernandez, Aida Sainz AS; Deglaire, Amélie A; Gille, Doreen D; Schmid, Alexandra A; Vergères, Guy G
Publication Date: 2019-11

Variant appearance in text: rs3917577
PubMed Link: 31483113
Variant Present in the following documents:
  • Main text
  • MNFR-63-na.pdf
View BVdb publication page



An update on vitamin B12-related gene polymorphisms and B12 status.

Genes & Nutrition
Surendran, S S; Adaikalakoteswari, A A; Saravanan, P P; Shatwaan, I A IA; Lovegrove, J A JA; Vimaleswaran, K S KS
Publication Date: 2018

Variant appearance in text: rs3917577
PubMed Link: 29445423
Variant Present in the following documents:
  • Main text
  • 12263_2018_Article_591.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs3917577
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study.

Journal Of Translational Medicine
Rizzi, Federica F; Conti, Costanza C; Dogliotti, Elena E; Terranegra, Annalisa A; Salvi, Erika E; Braga, Daniele D; Ricca, Flavia F; Lupoli, Sara S; Mingione, Alessandra A; Pivari, Francesca F; Brasacchio, Caterina C; Barcella, Matteo M; Chittani, Martina M; D'Avila, Francesca F; Turiel, Maurizio M; Lazzaroni, Monica M; Soldati, Laura L; Cusi, Daniele D; Barlassina, Cristina C
Publication Date: 2016-06-23

Variant appearance in text: rs3917577
PubMed Link: 27338244
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_941.pdf
View BVdb publication page



Additional Common Polymorphisms in the PON Gene Cluster Predict PON1 Activity but Not Vascular Disease.

Journal Of Lipids
Kim, Daniel S DS; Burt, Amber A AA; Ranchalis, Jane E JE; Richter, Rebecca J RJ; Marshall, Julieann K JK; Eintracht, Jason F JF; Rosenthal, Elisabeth A EA; Furlong, Clement E CE; Jarvik, Gail P GP
Publication Date: 2012

Variant appearance in text: rs3917577
PubMed Link: 22685667
Variant Present in the following documents:
  • Main text
  • JL2012-476316.pdf
View BVdb publication page