Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.R536W
Back to variants list

SHANK3

NM_001372044.2:p.R536W

Associated Papers

Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries.

Wan L et al.

Cellular and Molecular Neurobiology, 2022

SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population.

Manning C et al.

Autism Research and Treatment, 2021

Application of Human-Induced Pluripotent Stem Cells (hiPSCs) to Study Synaptopathy of Neurodevelopmental Disorders.

Shen X et al.

Developmental Neurobiology, 2019

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Kolevzon A et al.

Molecular Autism, 2019

Structural basis for PDZ domain interactions in the post-synaptic density scaffolding protein Shank3.

Ponna SK et al.

Journal of Neurochemistry, 2018

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S et al.

Molecular Autism, 2018

Investigation of SHANK3 in schizophrenia.

de Sena Cortabitarte A et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation.

Grabrucker S et al.

Experimental Neurology, 2014

The emerging role of SHANK genes in neuropsychiatric disorders.

Guilmatre A et al.

Developmental Neurobiology, 2014

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Genetic copy number variation and general cognitive ability.

MacLeod AK et al.

Plos One, 2012

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.

Julie G et al.

Journal of Visualized Experiments : Jove, 2011

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Gauthier J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."