Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R325H
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KCNJ2

NM_000891.3:p.R325H

Associated Papers

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

Anderson CL et al.

The Journal of Biological Chemistry, 2026

[Andersen-Tawil syndrome: A long QT syndrome with variable expression].

de Vera McMullan P et al.

Medicina Clinica, 2024

Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Braxton AM et al.

Biorxiv : the Preprint Server for Biology, 2023

36747709 (PubMed )
Supplement: media-5.xlsx › 116

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_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Chang RK et al.

The Journal of Pediatrics, 2014

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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."