Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.E10K
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KCNJ11

NM_000525.4:p.E10K

Associated Papers

Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.

Ryu D et al.

International Journal of Molecular Sciences, 2023

37176124 (PubMed )
Supplement: ijms-24-08418-s001.zip › Supplementary_Table_S2.xlsx › MUT_P5

KATP channels in focus: Progress toward a structural understanding of ligand regulation.

Martin GM et al.

Current Opinion in Structural Biology, 2023

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T et al.

Human Mutation, 1999

Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM.

Inoue H et al.

Diabetes, 1997

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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."