Varaico: Literature-Extracted Genetic Variants

Gene:SCN7A
Variant:p.Y562C
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SCN7A

NM_002976.4:p.Y562C

Associated Papers

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.

Cepeda-Nieto AC et al.

Cardiology Journal, 2021

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF et al.

Plos One, 2017

28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1
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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."