KCNH2 c.1942G>A ;(p.G648S)

Variant ID: 7-150648539-C-T

NM_000238.3(KCNH2):c.1942G>A;(p.G648S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: KCNH2: G648S
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.pdf
View BVdb publication page



Pseudopolymorphic Wide Complex Tachycardia in a Child With Long QT Syndrome.

Jacc. Case Reports
Cerrone, Marina M; Magnani, Silvia S; Borneman, Linda L; Cecchin, Frank F; Tan, Reina R; Fowler, Steven J SJ; Chinitz, Larry L; Jankelson, Lior L
Publication Date: 2020-04

Variant appearance in text: LQT2: G648S
PubMed Link: 34317300
Variant Present in the following documents:
  • Main text
  • main.pdf
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: G648S
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pore size matters for potassium channel conductance.

The Journal Of General Physiology
Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I
Publication Date: 2016-10

Variant appearance in text: KCNH2: G648S
PubMed Link: 27619418
Variant Present in the following documents:
  • Main text
  • JGP_201611625.pdf
View BVdb publication page