Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.E849K
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IQSEC2

NM_001111125.3:p.E849K

Associated Papers

Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.

Jada R et al.

International Journal of Molecular Sciences, 2023

BRAG1/IQSEC2 as a regulator of small GTPase-dependent trafficking.

Petersen A et al.

Small Gtpases, 2020

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.

Shoubridge C et al.

Human Mutation, 2019

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.

Hinze SJ et al.

Translational Psychiatry, 2017

Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors.

Um JW

Neuroscience Research, 2017

Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.

Brown JC et al.

Nature Communications, 2016

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

Kalscheuer VM et al.

Frontiers in Molecular Neuroscience, 2015

Arf6-GEF BRAG1 regulates JNK-mediated synaptic removal of GluA1-containing AMPA receptors: a new mechanism for nonsyndromic X-linked mental disorder.

Myers KR et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

Shoubridge C et al.

Small Gtpases, 2010

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

Shoubridge C et al.

Nature Genetics, 2010

Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.

Shokhen M et al.

Journal of Biomolecular Structure & Dynamics, 0

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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."