Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.V595F
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NALCN

NM_052867.4:p.V595F

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

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

Structure of the human sodium leak channel NALCN.

Kschonsak M et al.

Nature, 2020

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 2019

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

Karakaya M et al.

Neuropediatrics, 2016

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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."