Varaico: Literature-Extracted Genetic Variants

Gene:KCNN3
Variant:p.V450L
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KCNN3

NM_002249.6:p.V450L

Associated Papers

The genetics of portal hypertension: Recent developments and the road ahead.

Shalaby S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2023

Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.

Nam YW et al.

Acta Pharmacologica Sinica, 2023

KCa-Related Neurological Disorders: Phenotypic Spectrum and Therapeutic Indications.

Zahra A et al.

Current Neuropharmacology, 2023

Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity.

Orfali R et al.

Cell Calcium, 2022

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

Bauer CK et al.

American Journal of Human Genetics, 2019

A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.

Koot BG et al.

Journal of Hepatology, 2016

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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."