Varaico: Literature-Extracted Genetic Variants

Gene:GLRA2
Variant:p.V6L
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GLRA2

NM_002063.4:p.V6L

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

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J et al.

Biomedicines, 2023

38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5

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

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
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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."