KCNH2 c.353A>C ;(p.E118A)

Variant ID: 7-150656779-T-G

NM_000238.3(KCNH2):c.353A>C;(p.E118A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Probing allosteric coupling in a constitutively open mutant of the ion channel KcsA using solid-state NMR.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Zhiyu Z; Xu, Yunyao Y; Zhang, Dongyu D; McDermott, Ann E AE
Publication Date: 2020-03-31

Variant appearance in text: HERG: E118A
PubMed Link: 32188782
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

Plos One
Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH
Publication Date: 2012

Variant appearance in text: LQT2: E118A
PubMed Link: 22396785
Variant Present in the following documents:
  • Main text
  • pone.0032654.pdf
View BVdb publication page



Activation of Slo2.1 channels by niflumic acid.

The Journal Of General Physiology
Dai, Li L; Garg, Vivek V; Sanguinetti, Michael C MC
Publication Date: 2010-03

Variant appearance in text: HERG: E118A
PubMed Link: 20176855
Variant Present in the following documents:
  • JGP_200910316.pdf
View BVdb publication page