Varaico: Literature-Extracted Genetic Variants

Gene:KCND2
Variant:p.F538S
Back to variants list

KCND2

NM_012281.3:p.F538S

Associated Papers

The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder.

Liu Z et al.

Frontiers in Psychiatry, 2022

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.

Guglielmi L et al.

Frontiers in Cellular Neuroscience, 2015

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H et al.

Human Molecular Genetics, 2014

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."