KCNH2 c.1786C>G ;(p.P596A)

Variant ID: 7-150648695-G-C

NM_000238.3(KCNH2):c.1786C>G;(p.P596A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1786C>G; Pro596Ala
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: P596A
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Open conformation of hERG channel turrets revealed by a specific scorpion toxin BmKKx2.

Cell & Bioscience
Hu, You-Tian YT; Hu, Jun J; Li, Tian T; Wei, Jing-Jing JJ; Feng, Jing J; Du, Yi-Mei YM; Cao, Zhi-Jian ZJ; Li, Wen-Xin WX; Wu, Ying-Liang YL
Publication Date: 2014

Variant appearance in text: HERG: P596A
PubMed Link: 24725272
Variant Present in the following documents:
  • 2045-3701-4-18.pdf
View BVdb publication page