GPX4 c.561+19G>C

Variant ID: 19-1106477-G-C

NM_002085.3(GPX4):c.561+19G>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs8178977
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs8178977
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



A Genotype-Phenotype Analysis of Glutathione Peroxidase 4 in Human Atrial Myocardium and Its Association with Postoperative Atrial Fibrillation.

Antioxidants (Basel, Switzerland)
Berdaweel, Islam A IA; Hart, Alexander A AA; Jatis, Andrew J AJ; Karlan, Nathan N; Akhter, Shahab A SA; Gaine, Marie E ME; Smith, Ryan M RM; Anderson, Ethan J EJ
Publication Date: 2022-04-06

Variant appearance in text: rs8178977
PubMed Link: 35453406
Variant Present in the following documents:
  • Main text
  • antioxidants-11-00721.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs8178977
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs8178977
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs8178977
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Frontiers In Genetics
Klein, Kathrin K; Tremmel, Roman R; Winter, Stefan S; Fehr, Sarah S; Battke, Florian F; Scheurenbrand, Tim T; Schaeffeler, Elke E; Biskup, Saskia S; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2019

Variant appearance in text: rs8178977
PubMed Link: 30766545
Variant Present in the following documents:
  • Main text
  • fgene-10-00007.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs8178977
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Analyses of antioxidant status and nucleotide alterations in genes encoding antioxidant enzymes in patients with benign and malignant thyroid disorders.

Peerj
Ramli, Nur Siti Fatimah NSF; Mat Junit, Sarni S; Leong, Ng Khoon NK; Razali, Nurhanani N; Jayapalan, Jaime Jacqueline JJ; Abdul Aziz, Azlina A
Publication Date: 2017

Variant appearance in text: rs8178977
PubMed Link: 28584708
Variant Present in the following documents:
  • Main text
  • peerj-05-3365.pdf
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs8178977
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics
Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J
Publication Date: 2015

Variant appearance in text: rs8178977
PubMed Link: 26110739
Variant Present in the following documents:
  • 1471-2164-16-S8-S4-S1.pdf
View BVdb publication page



Selenium, selenoenzymes, oxidative stress and risk of neoplastic progression from Barrett's esophagus: results from biomarkers and genetic variants.

Plos One
Takata, Yumie Y; Kristal, Alan R AR; Santella, Regina M RM; King, Irena B IB; Duggan, David J DJ; Lampe, Johanna W JW; Rayman, Margaret P MP; Blount, Patricia L PL; Reid, Brian J BJ; Vaughan, Thomas L TL; Peters, Ulrike U
Publication Date: 2012

Variant appearance in text: rs8178977
PubMed Link: 22715394
Variant Present in the following documents:
  • Main text
  • pone.0038612.pdf
View BVdb publication page



Single-nucleotide polymorphisms within the antioxidant defence system and associations with aggressive prostate cancer.

Bju International
Abe, Miyako M; Xie, Wanling W; Regan, Meredith M MM; King, Irena B IB; Stampfer, Meir J MJ; Kantoff, Philip W PW; Oh, William K WK; Chan, June M JM
Publication Date: 2011-01

Variant appearance in text: rs8178977
PubMed Link: 20477822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populations.

Bmc Genetics
Foster, Charles B CB; Aswath, Kshama K; Chanock, Stephen J SJ; McKay, Heather F HF; Peters, Ulrike U
Publication Date: 2006-12-11

Variant appearance in text: rs8178977
PubMed Link: 17156480
Variant Present in the following documents:
  • 1471-2156-7-56-S4.pdf
View BVdb publication page