KCNH2 c.1418C>A ;(p.T473N)

Variant ID: 7-150649652-G-T

NM_000238.3(KCNH2):c.1418C>A;(p.T473N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: LQT2: T473N
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma.

Cell
Clark, David J DJ; Dhanasekaran, Saravana M SM; Petralia, Francesca F; Pan, Jianbo J; Song, Xiaoyu X; Hu, Yingwei Y; da Veiga Leprevost, Felipe F; Reva, Boris B; Lih, Tung-Shing M TM; Chang, Hui-Yin HY; Ma, Weiping W; Huang, Chen C; Ricketts, Christopher J CJ; Chen, Lijun L; Krek, Azra A; Li, Yize Y; Rykunov, Dmitry D; Li, Qing Kay QK; Chen, Lin S LS; Ozbek, Umut U; Vasaikar, Suhas S; Wu, Yige Y; Yoo, Seungyeul S; Chowdhury, Shrabanti S; Wyczalkowski, Matthew A MA; Ji, Jiayi J; Schnaubelt, Michael M; Kong, Andy A; Sethuraman, Sunantha S; Avtonomov, Dmitry M DM; Ao, Minghui M; Colaprico, Antonio A; Cao, Song S; Cho, Kyung-Cho KC; Kalayci, Selim S; Ma, Shiyong S; Liu, Wenke W; Ruggles, Kelly K; Calinawan, Anna A; Gümüş, Zeynep H ZH; Geiszler, Daniel D; Kawaler, Emily E; Teo, Guo Ci GC; Wen, Bo B; Zhang, Yuping Y; Keegan, Sarah S; Li, Kai K; Chen, Feng F; Edwards, Nathan N; Pierorazio, Phillip M PM; Chen, Xi Steven XS; Pavlovich, Christian P CP; Hakimi, A Ari AA; Brominski, Gabriel G; Hsieh, James J JJ; Antczak, Andrzej A; Omelchenko, Tatiana T; Lubinski, Jan J; Wiznerowicz, Maciej M; Linehan, W Marston WM; Kinsinger, Christopher R CR; Thiagarajan, Mathangi M; Boja, Emily S ES; Mesri, Mehdi M; Hiltke, Tara T; Robles, Ana I AI; Rodriguez, Henry H; Qian, Jiang J; Fenyö, David D; Zhang, Bing B; Ding, Li L; Schadt, Eric E; Chinnaiyan, Arul M AM; Zhang, Zhen Z; Omenn, Gilbert S GS; Cieslik, Marcin M; Chan, Daniel W DW; Nesvizhskii, Alexey I AI; Wang, Pei P; Zhang, Hui H; ,
Publication Date: 2019-10-31

Variant appearance in text: KCNH2: T473N
PubMed Link: 31675502
Variant Present in the following documents:
  • NIHMS1597713-supplement-Table_S7.xlsx, sheet 20
View BVdb publication page