Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.V313G
Back to variants list

NALCN

NM_052867.4:p.V313G

Associated Papers

Unplugging lateral fenestrations of NALCN reveals a hidden drug binding site within the pore region.

Schott K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Unplugging lateral fenestrations of NALCN reveals a hidden drug binding site within the pore module.

Schott K et al.

Biorxiv : the Preprint Server for Biology, 2024

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.

Liao Z et al.

Frontiers in Pediatrics, 2022

35911839 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Structure of the human sodium leak channel NALCN in complex with FAM155A.

Xie J et al.

Nature Communications, 2020

33203861 (PubMed )
Supplement: 41467_2020_19667_MOESM1_ESM.pdf

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Bend EG et al.

Neurology, 2016

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX et al.

American Journal of Human Genetics, 2015

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."