Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.E122K
Back to variants list

CNNM2

NM_017649.5:p.E122K

Associated Papers

Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.

Li H et al.

Frontiers in Genetics, 2025

Dimerization of the CNNM extracellular domain.

Shahsavan A et al.

Protein Science : a Publication of the Protein Society, 2024

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.

Xu X et al.

Molecular Genetics & Genomic Medicine, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure.

Tseng MH et al.

Frontiers in Genetics, 2022

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.

Li X et al.

Frontiers in Genetics, 2021

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.

Zhang H et al.

Frontiers in Pediatrics, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Magnesium efflux from Drosophila Kenyon cells is critical for normal and diet-enhanced long-term memory.

Wu Y et al.

Elife, 2020

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

García-Castaño A et al.

Plos One, 2020

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A et al.

European Journal of Medical Genetics, 2019

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

Arjona FJ et al.

Plos 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."