Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.S47R
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DCX

NM_001195553.2:p.S47R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Doublecortin restricts neuronal branching by regulating tubulin polyglutamylation.

Sébastien M et al.

Nature Communications, 2025

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Lacoste J et al.

Cell, 2024

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Lacoste J et al.

Biorxiv : the Preprint Server for Biology, 2023

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1

Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation.

Manka SW et al.

Embo Reports, 2020

33051979 (PubMed )
Supplement: EMBR-21-e51534-s001.pdf

Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.

Yap CC et al.

The Journal of Biological Chemistry, 2016

Doublecortin (Dcx) family proteins regulate filamentous actin structure in developing neurons.

Fu X et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.

Liu JS et al.

Molecular Cell, 2012

Phosphorylation of doublecortin by protein kinase A orchestrates microtubule and actin dynamics to promote neuronal progenitor cell migration.

Toriyama M et al.

The Journal of Biological Chemistry, 2012

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

DCX, a new mediator of the JNK pathway.

Gdalyahu A et al.

The Embo Journal, 2004

The DCX-domain tandems of doublecortin and doublecortin-like kinase.

Kim MH et al.

Nature Structural Biology, 2003

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N et al.

European Journal of Human Genetics : Ejhg, 2001

Doublecortin mutations cluster in evolutionarily conserved functional domains.

Sapir T et al.

Human Molecular Genetics, 2000

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

Gleeson JG et al.

Annals of Neurology, 1999

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