Varaico: Literature-Extracted Genetic Variants

Gene:NCS1
Variant:p.R102Q
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NCS1

NM_014286.4:p.R102Q

Associated Papers

Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.

Das MR et al.

Acs Chemical Neuroscience, 2025

Disorder in a two-domain neuronal Ca2+-binding protein regulates domain stability and dynamics using ligand mimicry.

Staby L et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Human Neuronal Calcium Sensor-1 Protein Avoids Histidine Residues To Decrease pH Sensitivity.

Gong Y et al.

The Journal of Physical Chemistry. B, 2017

Identification of critical amino acid residues and functional conservation of the Neurospora crassa and Rattus norvegicus orthologues of neuronal calcium sensor-1.

Gohain D et al.

Genetica, 2016

Effects of the C-Terminal Tail on the Conformational Dynamics of Human Neuronal Calcium Sensor-1 Protein.

Zhu Y et al.

The Journal of Physical Chemistry. B, 2015

R102Q mutation shifts the salt-bridge network and reduces the structural flexibility of human neuronal calcium sensor-1 protein.

Zhu Y et al.

The Journal of Physical Chemistry. B, 2014

The C-terminal tail of human neuronal calcium sensor 1 regulates the conformational stability of the Ca²⁺₋ activated state.

Heidarsson PO et al.

Journal of Molecular Biology, 2012

Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder.

Handley MT et al.

Plos One, 2010

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Piton A et al.

Human Molecular Genetics, 2008

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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."