Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.L171R
Back to variants list

KCNJ6

NM_002240.5:p.L171R

Associated Papers

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.

Chen IS et al.

The Journal of Physiology, 2022

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

van Karnebeek CD et al.

Neurogenetics, 2021

Comparison of K+ Channel Families.

Taura J et al.

Handbook of Experimental Pharmacology, 2021

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Horvath GA et al.

Neuroscience, 2018

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."