Varaico: Literature-Extracted Genetic Variants

Gene:CENPE
Variant:p.D933N
Back to variants list

CENPE

NM_001813.3:p.D933N

Associated Papers

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

A non-canonical function for Centromere-associated protein-E controls centrosome integrity and orientation of cell division.

Owa M et al.

Communications Biology, 2021

Kinesin-7 CENP-E regulates cell division, gastrulation and organogenesis in development.

Yu KW et al.

European Journal of Cell Biology, 2020

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM et al.

Human Genetics, 2014

Computational screening and molecular dynamics simulation of disease associated nsSNPs in CENP-E.

Kumar A et al.

Mutation Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."