Varaico: Literature-Extracted Genetic Variants

Gene:SHANK2
Variant:p.S557N
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SHANK2

NM_012309.5:p.S557N

Associated Papers

Zinc ion dyshomeostasis in autism spectrum disorder.

Ahmadani A et al.

Nutrition Research Reviews, 2025

Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.

Das MR et al.

Acs Chemical Neuroscience, 2025

In vitro zinc supplementation alters synaptic deficits caused by autism spectrum disorder-associated Shank2 point mutations in hippocampal neurons.

Vyas Y et al.

Molecular Brain, 2021

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Homann OR et al.

Molecular Psychiatry, 2016

Identification and functional characterization of rare SHANK2 variants in schizophrenia.

Peykov S et al.

Molecular Psychiatry, 2015

25560758 (PubMed )
Supplement: mp2014172x1.pdf

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Leblond CS et al.

Plos 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."