Varaico: Literature-Extracted Genetic Variants

Gene:KCND3
Variant:p.S347W
Back to variants list

KCND3

NM_001378969.1:p.S347W

Associated Papers

Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.

Contaldi E et al.

Cerebellum (london, England), 2024

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

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

Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

Zanni G et al.

International Journal of Molecular Sciences, 2021

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."