KCNQ1 c.784_785delinsGC ;(p.L262A)

Variant ID: 11-2594079-CT-GC

NM_000218.2(KCNQ1):c.784_785delinsGC;(p.L262A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.

Nature Communications
Willegems, Katrien K; Eldstrom, Jodene J; Kyriakis, Efthimios E; Ataei, Fariba F; Sahakyan, Harutyun H; Dou, Ying Y; Russo, Sophia S; Van Petegem, Filip F; Fedida, David D
Publication Date: 2022-06-29

Variant appearance in text: KCNQ1: L262A
PubMed Link: 35768468
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_31526.pdf
  • 41467_2022_31526_MOESM1_ESM.pdf
View BVdb publication page



Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03

Variant appearance in text: KCNQ1: L262A
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14406.pdf
View BVdb publication page



Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: L262A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page