Varaico: Literature-Extracted Genetic Variants

Gene:CUL3
Variant:p.L412L
Back to variants list

CUL3

NM_003590.5:p.L412L

Associated Papers

Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndrome.

Shi X et al.

Human Genomics, 2025

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.

Sharma P et al.

Cell Communication and Signaling : Ccs, 2023

Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.

Liu Z et al.

Human Molecular Genetics, 2022

The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.

Hureaux M et al.

Kidney International Reports, 2021

34622103 (PubMed )
Supplement: mmc1.pdf

Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene.

Nakano K et al.

Nephrology (carlton, Vic.), 2020

Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism.

Ostrosky-Frid M et al.

American Journal of Hypertension, 2020

A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II.

Shao L et al.

Febs Open Bio, 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."