Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.Q187*
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NKX2-5

NM_004387.4:p.Q187*

Associated Papers

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Kalayinia S et al.

Journal of Cardiovascular and Thoracic Research, 2019

A R/K-rich motif in the C-terminal of the homeodomain is required for complete translocating of NKX2.5 protein into nucleus.

Ouyang P et al.

Gene, 2016

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Chung IM et al.

Genes, 2016

[Readthrough on transcription factor NKX2.5 premature stop codon by tRNA suppressors].

Ouyang P et al.

Yi Chuan = Hereditas, 2015

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

Inga A et al.

Human Molecular Genetics, 2005

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Reamon-Buettner SM et al.

Journal of Medical 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."