Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.C683R
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SCN5A

NM_000335.5:p.C683R

Associated Papers

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

SCN5A-C683R exhibits combined gain-of-function and loss-of-function properties related to adrenaline-triggered ventricular arrhythmia.

Steinberg C et al.

Experimental Physiology, 2021

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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."