KCNH2 c.1959T>C ;(p.A653=)

Variant ID: 7-150648195-A-G

NM_000238.3(KCNH2):c.1959T>C;(p.A653=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: KCNH2: 1959T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics
Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ
Publication Date: 2013-05

Variant appearance in text: KCNH2: 1959T>C; A653A
PubMed Link: 23525077
Variant Present in the following documents:
  • NIHMS474888-supplement-5.xlsx, sheet 1
View BVdb publication page



The evolutionarily conserved residue A653 plays a key role in HERG channel closing.

The Journal Of Physiology
Stepanovic, Svetlana Z SZ; Potet, Franck F; Petersen, Christina I CI; Smith, Jarrod A JA; Meiler, Jens J; Balser, Jeffrey R JR; Kupershmidt, Sabina S
Publication Date: 2009-06-01

Variant appearance in text: HERG: A653A
PubMed Link: 19406877
Variant Present in the following documents:
  • Main text
View BVdb publication page