Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.R193P
Back to variants list

KCNJ1

NM_153766.3:p.R193P

Associated Papers

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.

Lin SC et al.

Biomedicines, 2022

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_original_annotations_.xlsx › clinvar_result-6

Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.

Nandakumar P et al.

Medicine, 2018

30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf

Rare mutations in renal sodium and potassium transporter genes exhibit impaired transport function.

Welling PA

Current Opinion in Nephrology and Hypertension, 2014

Hypertension resistance polymorphisms in ROMK (Kir1.1) alter channel function by different mechanisms.

Fang L et al.

American Journal of Physiology. Renal Physiology, 2010

Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Ji W et al.

Nature Genetics, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."