Varaico: Literature-Extracted Genetic Variants

Gene:TMEM87B
Variant:p.N456D
Back to variants list

TMEM87B

NM_032824.3:p.N456D

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Structure of the GOLD-domain seven-transmembrane helix protein family member TMEM87A.

Hoel CM et al.

Elife, 2022

Congenital heart defects in the recurrent 2q13 deletion syndrome.

Digilio MC et al.

European Journal of Medical Genetics, 2022

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

Yu HC et al.

Cold Spring Harbor Molecular Case Studies, 2016

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."