Varaico: Literature-Extracted Genetic Variants

Gene:KLHL3
Variant:p.R384Q
Back to variants list

KLHL3

NM_017415.3:p.R384Q

Associated Papers

Kelch-like protein 3 in human disease and therapy.

Lin Y et al.

Molecular Biology Reports, 2022

Unveiling the Distinct Mechanisms by which Disease-Causing Mutations in the Kelch Domain of KLHL3 Disrupt the Interaction with the Acidic Motif of WNK4 through Molecular Dynamics Simulation.

Wang L et al.

Biochemistry, 2019

Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation.

Schumacher FR et al.

The Biochemical Journal, 2014

The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.

Ohta A et al.

The Biochemical Journal, 2013

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Boyden LM et al.

Nature, 2012

[KLHL3 and CULLIN-3: new genes involved in familial hypertension].

Louis-Dit-Picard H et al.

Medecine Sciences : M/s, 0

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."