Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.C253S
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ZIC3

NM_003413.4:p.C253S

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

Paulussen AD et al.

European Journal of Human Genetics : Ejhg, 2016

Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3.

Chen L et al.

Biochimica Et Biophysica Acta, 2013

The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.

D'Alessandro LC et al.

American Journal of Medical Genetics. Part A, 2013

Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.

Ma L et al.

Cardiology in the Young, 2012

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

Wessels MW et al.

Journal of Medical Genetics, 2010

Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.

Hatayama M et al.

Human Molecular Genetics, 2008

Characterization of the interactions of human ZIC3 mutants with GLI3.

Zhu L et al.

Human Mutation, 2008

Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

Chhin B et al.

Human Mutation, 2007

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM et al.

American Journal of Human Genetics, 2004

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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."