Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.R736Q
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SHANK1

NM_016148.5:p.R736Q

Associated Papers

Simulated complexes formed from a set of postsynaptic proteins suggest a localised effect of a hypomorphic Shank mutation.

Miski M et al.

Bmc Neuroscience, 2024

A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.

Qin Y et al.

Molecular Psychiatry, 2022

35388181 (PubMed )
Supplement: 41380_2022_1539_MOESM1_ESM.docx

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Sato D et al.

American Journal of Human Genetics, 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."