Varaico: Literature-Extracted Genetic Variants

Gene:SEMA5A
Variant:p.R676C
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SEMA5A

NM_003966.3:p.R676C

Associated Papers

The ErbB2-Dock7 Signaling Axis Mediates Excessive Cell Morphogenesis Induced by Autism Spectrum Disorder- and Intellectual Disability-Associated Sema5A p.Arg676Cys.

Takahashi M et al.

International Journal of Molecular Sciences, 2025

Autism Spectrum Disorder- and/or Intellectual Disability-Associated Semaphorin-5A Exploits the Mechanism by Which Dock5 Signalosome Molecules Control Cell Shape.

Okabe M et al.

Current Issues in Molecular Biology, 2024

Structure and function of Semaphorin-5A glycosaminoglycan interactions.

Nagy GN et al.

Nature Communications, 2024

RhoG-Binding Domain of Elmo1 Ameliorates Excessive Process Elongation Induced by Autism Spectrum Disorder-Associated Sema5A.

Okabe M et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2023

Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.

Hu C et al.

Frontiers in Genetics, 2023

De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms.

Wang Q et al.

Frontiers in Genetics, 2019

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL et al.

European Journal of Human Genetics : Ejhg, 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."