Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.S1224L
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L1CAM

NM_001278116.2:p.S1224L

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1

Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation.

Patzke C et al.

The Journal of Experimental Medicine, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Ankyrin-B regulates Cav2.1 and Cav2.2 channel expression and targeting.

Kline CF et al.

The Journal of Biological Chemistry, 2014

Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin.

Bennett V et al.

Trends in Molecular Medicine, 2008

Cellular signalling mechanisms of neural cell adhesion molecules.

Panicker AK et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2003

The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins.

Thelen K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002

Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.

Needham LK et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2001

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Weller S et al.

Human Mutation, 2001

Neural cell recognition molecule L1: relating biological complexity to human disease mutations.

Kenwrick S et al.

Human Molecular Genetics, 2000

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

De Angelis E et al.

The Embo Journal, 1999

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Saugier-Veber P et al.

Human Mutation, 1998

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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."