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Article

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

The Journal of biological chemistry - 1 Jan 2026

Anderson Corey L, Munuwar Saba, Walters Janay K, McWilliams Seamus F, Melnick Molly, Langer Emma R, Bereslavskyy Igor, Milaitis Maxwell R, Reilly Louise, Eckhardt Lee L

Abstract excerpt

Hundreds of KCNJ2 (Kir2.1) variants of uncertain significance (VUS) have been associated with Andersen-Tawil Syndrome (ATS). Remarkably, most Kir2.1 variants' surface expression and function have been described via deep mutational scans (DMS). These results have provided an unprecedented picture of Kir2.1 structure-function relationships and insights into VUS. However, these studies are limited by the lack of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41308991
DOI: 10.1016/j.jbc.2025.110985
PMCID: PMC12775956

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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