Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.T203R
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DCX

NM_001195553.2:p.T203R

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 and JIP3 are neural-specific counteracting regulators of dynein-mediated retrograde trafficking.

Fu X et al.

Elife, 2022

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

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.

Shahsavani M et al.

Molecular Psychiatry, 2018

Doublecortin recognizes the longitudinal curvature of the microtubule end and lattice.

Bechstedt S et al.

Current Biology : Cb, 2014

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.

Chou A et al.

Clinical Genetics, 2009

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

Genetic malformations of the cerebral cortex and epilepsy.

Guerrini R

Epilepsia, 2005

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

Tanaka T et al.

The Journal of Cell Biology, 2004

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

Patient mutations in doublecortin define a repeated tubulin-binding domain.

Taylor KR et al.

The Journal of Biological Chemistry, 2000

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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