KCNQ1 c.727_729delinsTGG ;(p.R243W)

Variant ID: 11-2593286-CGC-TGG

NM_000218.2(KCNQ1):c.727_729delinsTGG;(p.R243W)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020

Variant appearance in text: KCNQ1: R243W
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
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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: R243W
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_14406_MOESM2_ESM.pdf
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.pdf
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I ion-channel pore conductance can result from individual voltage sensor movements.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Westhoff, Maartje M; Eldstrom, Jodene J; Murray, Christopher I CI; Thompson, Emely E; Fedida, David D
Publication Date: 2019-04-16

Variant appearance in text: KCNQ1: R243W
PubMed Link: 30918124
Variant Present in the following documents:
  • Main text
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KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.

The Journal Of Biological Chemistry
Meisel, Eshcar E; Dvir, Meidan M; Haitin, Yoni Y; Giladi, Moshe M; Peretz, Asher A; Attali, Bernard B
Publication Date: 2012-10-05

Variant appearance in text: KCNQ1: R243W
PubMed Link: 22908235
Variant Present in the following documents:
  • Main text
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KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.

Plos One
Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: R243W
PubMed Link: 18398469
Variant Present in the following documents:
  • Main text
  • pone.0001943.pdf
View BVdb publication page