Varaico: Literature-Extracted Genetic Variants

Gene:ZIC2
Variant:p.C370S
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ZIC2

NM_007129.5:p.C370S

Associated Papers

Systematized reporter assays reveal ZIC protein regulatory abilities are Subclass-specific and dependent upon transcription factor binding site context.

Ahmed JN et al.

Scientific Reports, 2020

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.

Dykes IM et al.

Scientific Reports, 2018

Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.

Houtmeyers R et al.

Human Molecular Genetics, 2016

Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling.

Pourebrahim R et al.

The Journal of Biological Chemistry, 2011

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.

Brown L et al.

Human Molecular Genetics, 2005

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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."