KCNQ1 c.823_824delinsGC ;(p.F275A)

Variant ID: 11-2594118-TT-GC

NM_000218.2(KCNQ1):c.823_824delinsGC;(p.F275A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.

Communications Biology
Wu, Xiaoan X; Perez, Marta E ME; Noskov, Sergei Yu SY; Larsson, H Peter HP
Publication Date: 2021-07-20

Variant appearance in text: KCNQ1: F275A
PubMed Link: 34285340
Variant Present in the following documents:
  • Main text
  • 42003_2021_2418_MOESM5_ESM.pdf
  • 42003_2021_2418_MOESM3_ESM.xlsx, sheet 8
  • 42003_2021_Article_2418.pdf
  • 42003_2021_2418_MOESM1_ESM.pdf
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Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2020-10-23

Variant appearance in text: KCNQ1: F275A
PubMed Link: 33095155
Variant Present in the following documents:
  • Main text
  • elife-57680.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: Kv7.1: F275A
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_Article_14406.pdf
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Probing binding sites and mechanisms of action of an I(Ks) activator by computations and experiments.

Biophysical Journal
Xu, Yu Y; Wang, Yuhong Y; Zhang, Mei M; Jiang, Min M; Rosenhouse-Dantsker, Avia A; Wassenaar, Tsjerk T; Tseng, Gea-Ny GN
Publication Date: 2015-01-06

Variant appearance in text: KCNQ1: F275A
PubMed Link: 25564853
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential modulations of KCNQ1 by auxiliary proteins KCNE1 and KCNE2.

Scientific Reports
Li, Pan P; Liu, Haowen H; Lai, Chaohua C; Sun, Peibei P; Zeng, Wenping W; Wu, Fangming F; Zhang, Longhua L; Wang, Sheng S; Tian, Changlin C; Ding, Jiuping J
Publication Date: 2014-05-15

Variant appearance in text: KCNQ1: F275A
PubMed Link: 24827085
Variant Present in the following documents:
  • Main text
  • srep04973.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: F275A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page