Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.E360Q
Back to variants list

GATA4

NM_001308093.3:p.E360Q

Associated Papers

Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.

Bruenger CMH et al.

European Journal of Human Genetics : Ejhg, 2025

40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.

Williams EA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32483240 (PubMed )
Supplement: 41379_2020_581_MOESM5_ESM.xlsx › Sheet1

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

Identification of functional mutations in GATA4 in patients with congenital heart disease.

Wang E et al.

Plos One, 2013

23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations
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."