Varaico: Literature-Extracted Genetic Variants

Gene:SYN2
Variant:p.G464R
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SYN2

NM_133625.6:p.G464R

Associated Papers

Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.

Wang J et al.

Iscience, 2023

37599823 (PubMed )
Supplement: mmc2.zip › Supplemental_tables › Supplemental_table_3.xlsx › Table_S3

Alterations of presynaptic proteins in autism spectrum disorder.

Yeo XY et al.

Frontiers in Molecular Neuroscience, 2022

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Schafer ST et al.

Nature Neuroscience, 2019

30617258 (PubMed )
Supplement: NIHMS1512664-supplement-Sup_Table_5.xlsx › whole_genelist_SAFARI

Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

Lin CY et al.

Scientific Reports, 2018

29523860 (PubMed )
Supplement: 41598_2018_22753_MOESM11_ESM.xlsx › Table_S10

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

Corradi A et al.

Human Molecular Genetics, 2014

Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.

Giovedí S et al.

Frontiers in Pediatrics, 2014

Synaptic proteins and receptors defects in autism spectrum disorders.

Chen J et al.

Frontiers in Cellular Neuroscience, 2014

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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."