Varaico: Literature-Extracted Genetic Variants

Gene:HVCN1
Variant:p.D112A
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HVCN1

NM_032369.4:p.D112A

Associated Papers

Quantitative insights into the mechanism of proton conduction and selectivity for the human voltage-gated proton channel Hv1.

Liu Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Trapping Charge Mechanism in Hv1 Channels (CiHv1).

Fernández M et al.

International Journal of Molecular Sciences, 2023

Proton currents constrain structural models of voltage sensor activation.

Randolph AL et al.

Elife, 2016

Insights into the structure and function of HV1 from a meta-analysis of mutation studies.

DeCoursey TE et al.

The Journal of General Physiology, 2016

Mapping the gating and permeation pathways in the voltage-gated proton channel Hv1.

Chamberlin A et al.

Journal of Molecular Biology, 2015

Voltage-gated proton channels: molecular biology, physiology, and pathophysiology of the H(V) family.

DeCoursey TE

Physiological Reviews, 2013

Aspartate 112 is the selectivity filter of the human voltage-gated proton channel.

Musset B et al.

Nature, 2011

22020278 (PubMed )
Supplement: NIHMS324797-supplement-1.pdf
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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."