TG c.4783G>C ;(p.D1595H)

Variant ID: 8-133941404-G-C

NM_003235.4(TG):c.4783G>C;(p.D1595H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 4783G>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pathological role of serum- and glucocorticoid-regulated kinase 1 in adverse ventricular remodeling.

Circulation
Das, Saumya S; Aiba, Takeshi T; Rosenberg, Michael M; Hessler, Katherine K; Xiao, Chunyang C; Quintero, Pablo A PA; Ottaviano, Filomena G FG; Knight, Ashley C AC; Graham, Evan L EL; Boström, Pontus P; Morissette, Michael R MR; del Monte, Federica F; Begley, Michael J MJ; Cantley, Lewis C LC; Ellinor, Patrick T PT; Tomaselli, Gordon F GF; Rosenzweig, Anthony A
Publication Date: 2012-10-30

Variant appearance in text: TG: D1595H
PubMed Link: 23019294
Variant Present in the following documents:
  • Main text
View BVdb publication page



LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice.

International Journal Of Cardiology
Zhang, Teng T; Yong, Sandro L SL; Drinko, Jeanne K JK; Popović, Zoran B ZB; Shryock, John C JC; Belardinelli, Luiz L; Wang, Qing Kenneth QK
Publication Date: 2011-03-03

Variant appearance in text: TG: D1595H
PubMed Link: 19762097
Variant Present in the following documents:
  • Main text
View BVdb publication page