Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Y352C
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SCN5A

NM_000335.5:p.Y352C

Associated Papers

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Han D et al.

Experimental Biology and Medicine (maywood, N.j.), 2018

A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.

Guo Q et al.

International Journal of Molecular Medicine, 2016

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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."