Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.Y194C
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L1CAM

NM_001278116.2:p.Y194C

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

NOG-Derived Peptides Can Restore Neuritogenesis on a CRASH Syndrome Cell Model.

Gasparotto M et al.

Biomedicines, 2022

The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.

Hortsch M et al.

Advances in Neurobiology, 2014

Homophilic interaction of the L1 family of cell adhesion molecules.

Wei CH et al.

Experimental & Molecular Medicine, 2012

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.

Michelson P et al.

Human Mutation, 2002

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

Weller S et al.

Human Mutation, 2001

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

Finckh U et al.

American Journal of Medical Genetics, 2000

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 a homophilic binding site in immunoglobulin-like domain 2 of the cell adhesion molecule L1.

Zhao X et al.

Journal of Neurochemistry, 1998

Genotype-phenotype correlation in L1 associated diseases.

Fransen E et al.

Journal of Medical Genetics, 1998

Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations.

Brümmendorf T et al.

Current Opinion in Neurobiology, 1998

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

Fransen E et al.

Human Molecular Genetics, 1997

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Gu SM et al.

Journal of Medical Genetics, 1996

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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."