Varaico: Literature-Extracted Genetic Variants

Gene:ZIC3
Variant:p.K405E
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ZIC3

NM_003413.4:p.K405E

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Paulussen AD et al.

European Journal of Human Genetics : Ejhg, 2016

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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

Characterization of the interactions of human ZIC3 mutants with GLI3.

Zhu L et al.

Human Mutation, 2008

Identification of a novel role of ZIC3 in regulating cardiac development.

Zhu L et al.

Human Molecular Genetics, 2007

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

Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.

Bedard JE et al.

Human Molecular Genetics, 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."