Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.D611N
Back to variants list

GRIA2

NM_001083619.3:p.D611N

Associated Papers

Atomistic mechanisms of calcium permeation modulated by Q/R editing and selectivity filter mutations in GluA2 AMPA receptors.

Heiser F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

GluA2-containing AMPA receptors form a continuum of Ca2+-permeable channels.

Miguez-Cabello F et al.

Nature, 2025

Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.

Cai Q et al.

Bmc Pediatrics, 2022

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.

Alkelai A et al.

Journal of Human Genetics, 2021

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.

Zhou B et al.

Frontiers in Genetics, 2021

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V et al.

Nature Communications, 2019

[A novel missense mutation in MIP gene resulted in polymorphic cataract].

Lin H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

AMPA receptor tetramerization is mediated by Q/R editing.

Greger IH et al.

Neuron, 2003

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."