Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.S341Y
Back to variants list

NR2F2

NM_021005.4:p.S341Y

Associated Papers

Role of COUP‑TFII in cardiovascular diseases and colorectal cancer: Insights into the molecular mechanisms and clinical relevance (Review).

Park TH et al.

Molecular Medicine Reports, 2025

Rare pathogenic NR2F2 (COUP-TFII) variants as potential etiological causes in pediatric patients with congenital heart diseases (CHDs).

Mansoor W et al.

Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 2025

Evidence for NR2F2/COUP-TFII involvement in human testis development.

Wankanit S et al.

Scientific Reports, 2024

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Ganapathi M et al.

European Journal of Human Genetics : Ejhg, 2023

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2018

Rare variants in NR2F2 cause congenital heart defects in humans.

Al Turki S et al.

American Journal of Human Genetics, 2014

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."