Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.K214R
Back to variants list

KCND3

NM_001378969.1:p.K214R

Associated Papers

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Palombo F et al.

Neurology. Genetics, 2022

A Novel KCND3 Variant in a Korean Family With SCA19.

Ha H et al.

Journal of Clinical Neurology (seoul, Korea), 2022

35021282 (PubMed )
Supplement: jcn-18-90-s003.pdf

Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.

Li M et al.

Frontiers in Molecular Neuroscience, 2022

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.

Hsiao CT et al.

International Journal of Molecular Sciences, 2021

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Pollini L et al.

International Journal of Molecular Sciences, 2020

Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.

Weeke P et al.

Circulation. Cardiovascular Genetics, 2015

Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk.

Mann SA et al.

Journal of the American College of Cardiology, 2012

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.

Giudicessi JR et al.

Heart Rhythm, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."