Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.R97R
Back to variants list

KCNA2

NM_004974.4:p.R97R

Associated Papers

An epilepsy-associated KV1.2 charge-transfer-center mutation impairs KV1.2 and KV1.4 trafficking.

Nilsson M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy.

Pantazis A et al.

The Journal of Physiology, 2020

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."