Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.W255G
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ZIC3

NM_003413.4:p.W255G

Associated Papers

GATA5 SUMOylation is indispensable for zebrafish cardiac development.

Wen B et al.

Biochimica Et Biophysica Acta. General Subjects, 2017

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

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

Ma L et al.

Cardiology in the Young, 2012

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.

Levy R et al.

Human Mutation, 2011

21898656 (PubMed )
Supplement: supplement_1.pdf

Characterization of the tandem CWCH2 sequence motif: a hallmark of inter-zinc finger interactions.

Hatayama M et al.

Bmc Evolutionary Biology, 2010

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

Hatayama M et al.

Human Molecular Genetics, 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

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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."