Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.R180H
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KCNJ10

NM_002241.5:p.R180H

Associated Papers

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

Wirth T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_3
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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."