Varaico: Literature-Extracted Genetic Variants

Gene:HVCN1
Variant:p.D185N
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HVCN1

NM_032369.4:p.D185N

Associated Papers

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

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."