Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.C121Y
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SMAD6

NM_005585.5:p.C121Y

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

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Musfee FI et al.

Molecular Genetics & Genomic Medicine, 2020

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Predicting the impact of deleterious single point mutations in SMAD gene family using structural bioinformatics approach.

George Priya Doss C et al.

Interdisciplinary Sciences, Computational Life Sciences, 2012

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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."