Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R144Q
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NHS

NM_001291867.2:p.R144Q

Associated Papers

Diverse residues of intracellular loop 5 of the Na+/H+ exchanger modulate proton sensing, expression, activity and targeting.

Wong KY et al.

Biochimica Et Biophysica Acta. Biomembranes, 2019

SNX16 Regulates the Recycling of E-Cadherin through a Unique Mechanism of Coordinated Membrane and Cargo Binding.

Xu J et al.

Structure (london, England : 1993), 2017

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

Functional characterization of genetic variants in the apical sodium-dependent bile acid transporter (ASBT; SLC10A2).

Ho RH et al.

Journal of Gastroenterology and Hepatology, 2011

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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."