PON1 c.602C>T ;(p.A201V)

Variant ID: 7-94937419-G-A

NM_000446.5(PON1):c.602C>T;(p.A201V)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Association of APOE (rs429358 and rs7412) and PON1 (Q192R and L55M) Variants with Myocardial Infarction in the Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Genes
Rahman, Naveed N; Zakiullah, ; Jan, Asif A; Saeed, Muhammad M; Khan, Muhammad Asghar MA; Parveen, Zahida Z; Iqbal, Javaid J; Ali, Sajid S; Shah, Waheed Ali WA; Akbar, Rani R; Khuda, Fazli F
Publication Date: 2023-03-10

Variant appearance in text: rs80019660
PubMed Link: 36980959
Variant Present in the following documents:
  • genes-14-00687.pdf
View BVdb publication page



The Relationship between Cancer and Paraoxonase 1.

Antioxidants (Basel, Switzerland)
Medina-Díaz, Irma Martha IM; Ponce-Ruíz, Néstor N; Rojas-García, Aurora Elizabeth AE; Zambrano-Zargoza, José Francisco JF; Bernal-Hernández, Yael Y YY; González-Arias, Cyndia Azucena CA; Barrón-Vivanco, Briscia S BS; Herrera-Moreno, José Francisco JF
Publication Date: 2022-03-31

Variant appearance in text: PON1: A201V; rs80019660
PubMed Link: 35453382
Variant Present in the following documents:
  • Main text
  • antioxidants-11-00697.pdf
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: PON1: A201V; rs80019660
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: PON1: A201V; rs80019660
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica
Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; Monsurrò, Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL
Publication Date: 2018-12

Variant appearance in text: PON1: A201V; rs80019660
PubMed Link: 30317490
Variant Present in the following documents:
  • 13760_2018_1029_MOESM3_ESM.pdf
  • 13760_2018_1029_MOESM4_ESM.pdf
View BVdb publication page



Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry
Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2018-08

Variant appearance in text: PON1: A201V
PubMed Link: 29332010
Variant Present in the following documents:
  • jnnp-2017-317234supp001.pdf
View BVdb publication page



A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Brain : A Journal Of Neurology
Morgan, Sarah S; Shatunov, Aleksey A; Sproviero, William W; Jones, Ashley R AR; Shoai, Maryam M; Hughes, Deborah D; Al Khleifat, Ahmad A; Malaspina, Andrea A; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; Sidle, Katie K; Orrell, Richard W RW; Fratta, Pietro P; Hardy, John J; Pittman, Alan A; Al-Chalabi, Ammar A
Publication Date: 2017-06-01

Variant appearance in text: PON1: A201V; rs80019660
PubMed Link: 28430856
Variant Present in the following documents:
  • awx082_Supp.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PON1: A201V
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project.

Journal Of Lipid Research
Kim, Daniel Seung DS; Crosslin, David R DR; Auer, Paul L PL; Suzuki, Stephanie M SM; Marsillach, Judit J; Burt, Amber A AA; Gordon, Adam S AS; Meschia, James F JF; Nalls, Mike A MA; Worrall, Bradford B BB; Longstreth, W T WT; Gottesman, Rebecca F RF; Furlong, Clement E CE; Peters, Ulrike U; Rich, Stephen S SS; Nickerson, Deborah A DA; Jarvik, Gail P GP; ,
Publication Date: 2014-06

Variant appearance in text: PON1: Ala201Val; rs80019660
PubMed Link: 24711634
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: PON1: A201V; rs80019660
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

Journal Of Lipid Research
Kim, Daniel S DS; Burt, Amber A AA; Crosslin, David R DR; Robertson, Peggy D PD; Ranchalis, Jane E JE; Boyko, Edward J EJ; Nickerson, Deborah A DA; Furlong, Clement E CE; Jarvik, Gail P GP
Publication Date: 2013-02

Variant appearance in text: PON: Ala201Val; rs80019660
PubMed Link: 23160181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Annals Of Neurology
Ticozzi, Nicola N; LeClerc, Ashley Lyn AL; Keagle, Pamela J PJ; Glass, Jonathan D JD; Wills, Anne-Marie AM; van Blitterswijk, Marka M; Bosco, Daryl A DA; Rodriguez-Leyva, Ildefonso I; Gellera, Cinzia C; Ratti, Antonia A; Taroni, Franco F; McKenna-Yasek, Diane D; Sapp, Peter C PC; Silani, Vincenzo V; Furlong, Clement E CE; Brown, Robert H RH; Landers, John E JE
Publication Date: 2010-07

Variant appearance in text: PON: 602C>T
PubMed Link: 20582942
Variant Present in the following documents:
  • Main text
View BVdb publication page