Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.Q160P
Back to variants list

NKX2-5

NM_004387.4:p.Q160P

Associated Papers

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

Dixit R et al.

American Journal of Medical Genetics. Part A, 2021

Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface.

Lei X et al.

Journal of Molecular Biology, 2020

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

Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.

Khatami M et al.

Medicina (kaunas, Lithuania), 2018

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Abou Hassan OK et al.

Scientific Reports, 2015

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.

Stallmeyer B et al.

Clinical Genetics, 2010

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

NKX2.5 mutations in patients with non-syndromic congenital heart disease.

Gioli-Pereira L et al.

International Journal of Cardiology, 2010

Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa.

Rifai L et al.

Cardiology in the Young, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."