Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.K79N
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KCNK9

NM_001282534.2:p.K79N

Associated Papers

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

Dsouza NR et al.

International Journal of Molecular Sciences, 2024

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Cousin MA et al.

Genome Medicine, 2022

Pharmacologically reversible, loss of function mutations in the TM2 and TM4 inner pore helices of TREK-1 K2P channels.

Al-Moubarak E et al.

Scientific Reports, 2019

Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome.

Veale EL et al.

Molecular Pharmacology, 2014

Gating of two pore domain potassium channels.

Mathie A et al.

The Journal of Physiology, 2010

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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."