Varaico: Literature-Extracted Genetic Variants

Gene:GLRA2
Variant:p.R350L
Back to variants list

GLRA2

NM_002063.4:p.R350L

Associated Papers

The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders.

Fraser SD et al.

Frontiers in Molecular Neuroscience, 2025

40007572 (PubMed )
Supplement: Table_1.docx

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.

Mir A et al.

Bmc Medical Genomics, 2023

GLRA2 gene mutations cause high myopia in humans and mice.

Tian Q et al.

Journal of Medical Genetics, 2023

35396272 (PubMed )
Supplement: jmedgenet-2022-108425supp001.pdf

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.

Chen X et al.

Frontiers in Molecular Neuroscience, 2022

35571374 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.

Zhang Y et al.

Frontiers in Molecular Neuroscience, 2017

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.

Pilorge M et al.

Molecular Psychiatry, 2016

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A et al.

Molecular Psychiatry, 2011

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."