Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.Q206P
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GATA6

NM_005257.6:p.Q206P

Associated Papers

GATA6 is a regulator of sinus node development and heart rhythm.

Gharibeh L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

33443158 (PubMed )
Supplement: pnas.2007322118.sapp.pdf

Gain-of-function mutations in GATA6 lead to atrial fibrillation.

Tucker NR et al.

Heart Rhythm, 2017

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation.

Li J et al.

International Journal of Molecular Medicine, 2012

Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation.

Yang YQ et al.

International Journal of Cardiology, 2012

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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."