Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.D141V
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KCNA3

NM_002232.5:p.D141V

Associated Papers

High-throughput screens identify genotype-specific therapeutics for channelopathies.

Egly CL et al.

Jci Insight, 2025

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

Anderson CL et al.

Circulation, 2006

Requirement of negative residues, Asp 95 and Asp 105, in S2 on membrane integration of a voltage-dependent K+ channel, KAT1.

Sato Y et al.

Bioscience, Biotechnology, and Biochemistry, 2003

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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."