Varaico: Literature-Extracted Genetic Variants

Gene:TRIO
Variant:p.P1461T
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TRIO

NM_007118.4:p.P1461T

Associated Papers

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Bonnet M et al.

Molecular Psychiatry, 2023

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Singh T et al.

Nature, 2022

Dysfunction of Trio GEF1 involves in excitatory/inhibitory imbalance and autism-like behaviors through regulation of interneuron migration.

Sun X et al.

Molecular Psychiatry, 2021

Autism Spectrum Disorder/Intellectual Disability-Associated Mutations in Trio Disrupt Neuroligin 1-Mediated Synaptogenesis.

Tian C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.

Schultz-Rogers L et al.

Bmc Medical Genetics, 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

Sadybekov A et al.

Nature Communications, 2017

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ et al.

Journal of Medical Genetics, 2016

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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."