Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.V180I
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NR3C2

NM_000901.5:p.V180I

Associated Papers

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.

Nakata Y et al.

Journal of Clinical Medicine, 2025

40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_2__MR_group_.xlsx › MR_group_n_88_

Investigating the Role of Gene Polymorphisms in Hypertension: Evidence from the Jordanian Population.

Al-Sanabra O et al.

Vascular Health and Risk Management, 2025

Genetic Variation in ABCB1, ADRB1, CYP3A4, CYP3A5, NEDD4L and NR3C2 Confers Differential Susceptibility to Resistant Hypertension among South Africans.

Katsukunya JN et al.

Journal of Personalized Medicine, 2024

Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.

Kalideen K et al.

Journal of Personalized Medicine, 2024

38541065 (PubMed )
Supplement: jpm-14-00323-s001.zip › jpm-2900250-supplementary.pdf

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases.

Mhatre I et al.

Scientific Reports, 2023

37798313 (PubMed )
Supplement: 41598_2023_44127_MOESM2_ESM.pdf

Impact of Mineralocorticoid Receptor Gene NR3C2 on the Prediction of Functional Classification of Left Ventricular Remodeling and Arrhythmia after Acute Myocardial Infarction.

Braukyliene R et al.

International Journal of Environmental Research and Public Health, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Clinical features, genetic background, and outcome in infants with urinary tract infection and type IV renal tubular acidosis.

Tseng MH et al.

Pediatric Research, 2020

A novel SCNN1G mutation in a PHA I infant patient correlates with nephropathy.

Yin LP et al.

Biochemical and Biophysical Research Communications, 2019

Glucocorticoid Receptors, Brain-Derived Neurotrophic Factor, Serotonin and Dopamine Neurotransmission are Associated with Interferon-Induced Depression.

Udina M et al.

The International Journal of Neuropsychopharmacology, 2016

Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes.

Jeong HA et al.

Annals of Pediatric Endocrinology & Metabolism, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A08F-01A.domain
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."