Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.A198T
Back to variants list

KCNJ1

NM_000220.6:p.A198T

Associated Papers

Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.

Liang W et al.

Translational Pediatrics, 2025

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

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.

Starremans PG et al.

Pflugers Archiv : European Journal of Physiology, 2002

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."