SCN5A c.1442G>A ;(p.R481Q)

Variant ID: 3-38646296-C-T

NM_000335.4(SCN5A):c.1442G>A;(p.R481Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.

Circulation
Lota, Amrit S AS; Hazebroek, Mark R MR; Theotokis, Pantazis P; Wassall, Rebecca R; Salmi, Sara S; Halliday, Brian P BP; Tayal, Upasana U; Verdonschot, Job J; Meena, Devendra D; Owen, Ruth R; de Marvao, Antonio A; Iacob, Alma A; Yazdani, Momina M; Hammersley, Daniel J DJ; Jones, Richard E RE; Wage, Riccardo R; Buchan, Rachel R; Vivian, Fredrik F; Hafouda, Yakeen Y; Noseda, Michela M; Gregson, John J; Mittal, Tarun T; Wong, Joyce J; Robertus, Jan Lukas JL; Baksi, A John AJ; Vassiliou, Vassilios V; Tzoulaki, Ioanna I; Pantazis, Antonis A; Cleland, John G F JGF; Barton, Paul J R PJR; Cook, Stuart A SA; Pennell, Dudley J DJ; Garcia-Pavia, Pablo P; Cooper, Leslie T LT; Heymans, Stephane S; Ware, James S JS; Prasad, Sanjay K SK
Publication Date: 2022-10-11

Variant appearance in text: SCN5A: 1442G>A; Arg481Gln
PubMed Link: 36154167
Variant Present in the following documents:
  • cir-146-1123-s001.pdf
View BVdb publication page



Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27

Variant appearance in text: SCN5A: 1442G>A; Arg481Gln; rs142804667
PubMed Link: 34580349
Variant Present in the following documents:
  • 41598_2021_98414_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page