GPX4 c.36G>C ;(p.P12=)

Variant ID: 19-1104078-G-C

NM_002085.3(GPX4):c.36G>C;(p.P12=)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: GPX4: Pro12=
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
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Pharmacogenetics Role of Genetic Variants in Immune-Related Factors: A Systematic Review Focusing on mCRC.

Pharmaceutics
Scarabel, Lucia L; Bignucolo, Alessia A; Toffoli, Giuseppe G; Cecchin, Erika E; De Mattia, Elena E
Publication Date: 2022-11-15

Variant appearance in text: rs4807542
PubMed Link: 36432658
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-02468.pdf
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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs4807542
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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: GPX4: P12P; rs4807542
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
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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: rs4807542
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiple genetic variations of chronic rhinosinusitis with nasal polyps are associated with respiratory parameters in men with obstructive sleep apnea.

Sleep & Breathing = Schlaf & Atmung
Zhang, Qianqian Q; Wang, Xiaoting X; Cheng, Xiangyu X; Wu, Xiaolin X; Feng, Yunhai Y; Xu, Huajun H; Zhu, Huaming H; Yi, Hongliang H; Zhang, Weitian W; Li, Xinyi X; Ye, Haibo H
Publication Date: 2022-03

Variant appearance in text: rs4807542
PubMed Link: 33770380
Variant Present in the following documents:
  • Main text
  • 11325_2021_Article_2356.pdf
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Haplotype Analysis of Candidate Genes Involved in Inflammation and Oxidative Stress and the Susceptibility to Preeclampsia.

Journal Of Immunology Research
Chen, Aiping A; Zhao, Huifang H; Wang, Jingli J; Zhang, Ru R; Liu, Jingjing J; Zhao, Xin X; Li, Congying C; Jia, Xuewen X; Li, Xueying X; Lin, Yan Y; Guo, Mingzhen M; Li, Sai S; Liu, Chao C; Li, Yuan Y; Liu, Shiguo S
Publication Date: 2020

Variant appearance in text: rs4807542
PubMed Link: 32185238
Variant Present in the following documents:
  • Main text
  • JIR2020-4683798.pdf
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NRF2: The key to tumor- and patient-dependent chemosensitivity in biliary tract cancer?

Ebiomedicine
Kiesslich, Tobias T; Mayr, Christian C; Neureiter, Daniel D
Publication Date: 2019-11

Variant appearance in text: rs4807542
PubMed Link: 31648982
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Variants in oxidative stress-related genes affect the chemosensitivity through Nrf2-mediated signaling pathway in biliary tract cancer.

Ebiomedicine
Zhan, Ming M; Wang, Hui H; Xu, Sun-Wang SW; Yang, Lin-Hua LH; Chen, Wei W; Zhao, Shuang-Xia SX; Shen, Hui H; Liu, Qiang Q; Yang, Rui-Meng RM; Wang, Jian J
Publication Date: 2019-10

Variant appearance in text: rs4807542
PubMed Link: 31590928
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs4807542
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs4807542
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
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: GPX4: P12P; rs4807542
PubMed Link: 28584708
Variant Present in the following documents:
  • Main text
  • peerj-05-3365.pdf
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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: GPX4: P12P; rs4807542
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Evaluation of Glutathione Peroxidase 4 role in Preeclampsia.

Scientific Reports
Peng, Xinguo X; Lin, Yan Y; Li, Jinling J; Liu, Mengchun M; Wang, Jingli J; Li, Xueying X; Liu, Jingjing J; Jia, Xuewen X; Jing, Zhongcui Z; Huang, Zuzhou Z; Chu, Kaiqiu K; Liu, Shiguo S
Publication Date: 2016-09-19

Variant appearance in text: rs4807542
PubMed Link: 27641822
Variant Present in the following documents:
  • Main text
  • srep33300.pdf
View BVdb publication page



Selenium and chronic diseases: a nutritional genomics perspective.

Nutrients
Méplan, Catherine C
Publication Date: 2015-05-15

Variant appearance in text: rs4807542
PubMed Link: 25988760
Variant Present in the following documents:
  • Main text
  • nutrients-07-03621.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: rs4807542
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: rs4807542
PubMed Link: 20477822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Mavaddat, Nasim N; Dunning, Alison M AM; Ponder, Bruce A J BA; Easton, Douglas F DF; Pharoah, Paul D PD
Publication Date: 2009-01

Variant appearance in text: rs4807542
PubMed Link: 19124506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions between genes involved in the antioxidant defence system and breast cancer risk.

British Journal Of Cancer
Oestergaard, M Z MZ; Tyrer, J J; Cebrian, A A; Shah, M M; Dunning, A M AM; Ponder, B A J BA; Easton, D F DF; Pharoah, P D P PD
Publication Date: 2006-08-21

Variant appearance in text: rs4807542
PubMed Link: 16868544
Variant Present in the following documents:
  • Main text
  • 95-6603272a.pdf
View BVdb publication page