NR3C1 c.2034C>A ;(p.D678E)

Variant ID: 5-142662280-G-T

NM_000176.2(NR3C1):c.2034C>A;(p.D678E)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


The role of the glucocorticoid receptor and its impact on steroid response in moderate-severe COVID-19 patients.

European Journal Of Pharmacology
Aliska, Gestina G; Nafrialdi, Nafrialdi N; Lie, Khie Chen KC; Setiabudy, Rianto R; Putra, Andani Eka AE; Widyahening, Indah Suci IS; Harahap, Alida Roswita AR
Publication Date: 2023-01-28

Variant appearance in text: rs258751
PubMed Link: 36720399
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Familial Linkage and Association of the NR3C1 Gene with Type 2 Diabetes and Depression Comorbidity.

International Journal Of Molecular Sciences
Amin, Mutaz M; Syed, Shumail S; Wu, Rongling R; Postolache, Teodor Tudorel TT; Gragnoli, Claudia C
Publication Date: 2022-10-08

Variant appearance in text: rs258751
PubMed Link: 36233250
Variant Present in the following documents:
  • Main text
  • ijms-23-11951.pdf
View BVdb publication page



NR3C1 Glucocorticoid Receptor Gene Polymorphisms Are Associated with Membranous and IgA Nephropathies.

Cells
Pac, Michał M; Krata, Natalia N; Moszczuk, Barbara B; Wyczałkowska-Tomasik, Aleksandra A; Kaleta, Beata B; Foroncewicz, Bartosz B; Rudnicki, Witold W; Pączek, Leszek L; Mucha, Krzysztof K
Publication Date: 2021-11-16

Variant appearance in text: rs258751
PubMed Link: 34831409
Variant Present in the following documents:
  • Main text
  • cells-10-03186.pdf
View BVdb publication page



Association between NR3C1 gene polymorphisms and age-related hearing impairment in Qingdao Chinese elderly.

Bmc Medical Genomics
Song, Wanxue W; Cao, Hainan H; Zhang, Dongfeng D; Xu, Haiyan H; Zhang, Qianqian Q; Wang, Zhaoguo Z; Li, Suyun S; Wang, Weijing W; Hu, Wenchao W; Wang, Bingling B; Duan, Haiping H
Publication Date: 2021-07-28

Variant appearance in text: rs258751
PubMed Link: 34320993
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1044.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs258751
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.

International Journal Of Molecular Sciences
Kringel, Dario D; Malkusch, Sebastian S; Kalso, Eija E; Lötsch, Jörn J
Publication Date: 2021-01-16

Variant appearance in text: rs258751
PubMed Link: 33467215
Variant Present in the following documents:
  • Main text
  • ijms-22-00878.pdf
View BVdb publication page



NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese.

Journal Of Physiological Anthropology
Yang, Yingzhong Y; Du, Hui H; Li, Yuhong Y; Guan, Wei W; Tang, Feng F; Ga, Qin Q; Ge, Ri-Li RL
Publication Date: 2019-04-18

Variant appearance in text: rs258751
PubMed Link: 30999951
Variant Present in the following documents:
  • Main text
  • 40101_2019_Article_194.pdf
View BVdb publication page



Pharmacology and pharmacogenetics of prednisone and prednisolone in patients with nephrotic syndrome.

Pediatric Nephrology (Berlin, Germany)
Schijvens, Anne M AM; Ter Heine, Rob R; de Wildt, Saskia N SN; Schreuder, Michiel F MF
Publication Date: 2019-03

Variant appearance in text: rs258751
PubMed Link: 29549463
Variant Present in the following documents:
  • Main text
  • 467_2018_Article_3929.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: NR3C1: D678E
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs258751
PubMed Link: 25802476
Variant Present in the following documents:
  • Main text
  • 542543.f1.xlsx, sheet 1
  • DM2015-542543.pdf
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs258751
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Candidate gene analysis in israeli soldiers with stress fractures.

Journal Of Sports Science & Medicine
Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS
Publication Date: 2012

Variant appearance in text: rs258751
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research
Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C
Publication Date: 2011-01

Variant appearance in text: rs258751
PubMed Link: 20843780
Variant Present in the following documents:
  • supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
View BVdb publication page



Human glucocorticoid receptor alpha gene (NR3C1) pharmacogenomics: gene resequencing and functional genomics.

The Journal Of Clinical Endocrinology And Metabolism
Niu, Nifang N; Manickam, Venkatraman V; Kalari, Krishna R KR; Moon, Irene I; Pelleymounter, Linda L LL; Eckloff, Bruce W BW; Wieben, Eric D ED; Schaid, Daniel J DJ; Wang, Liewei L
Publication Date: 2009-08

Variant appearance in text: rs258751
PubMed Link: 19435830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure.

The Journal Of Clinical Endocrinology And Metabolism
Chung, Charles C CC; Shimmin, Lawrence L; Natarajan, Sivamani S; Hanis, Craig L CL; Boerwinkle, Eric E; Hixson, James E JE
Publication Date: 2009-01

Variant appearance in text: rs258751
PubMed Link: 18854398
Variant Present in the following documents:
  • Main text
View BVdb publication page