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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCN1

Variant:p.S272L

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HCN1

NM_021072.4:p.S272L

hg38:chr5:45645219 G>A

Associated Papers

Helix breaking transition in the S4 of HCN channel is critical for hyperpolarization-dependent gating.

Kasimova MA et al.

Elife, 2019

31774399 (PubMed )

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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."