Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.R87C
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SHANK3

NM_001372044.2:p.R87C

Associated Papers

Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex.

Xie S et al.

Journal of Chemical Information and Modeling, 2025

40633098 (PubMed )
Supplement: ci5c01162_si_001.pdf

Autism-associated Shank3 mutations alter mGluR expression and mGluR-dependent but not NMDA receptor-dependent long-term depression.

Lee K et al.

Synapse (new York, N.y.), 2019

Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength.

Arons MH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling.

Arons MH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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."