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KCNQ1 c.499_500delinsCG ;(p.F167R)
Variant ID: 11-2591879-TT-CG
NM_000218.2(
KCNQ1
):c.499_500delinsCG;(p.F167R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Modulating the voltage sensor of a cardiac potassium channel shows antiarrhythmic effects.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Lin, Yangyang Y; Grinter, Sam Z SZ; Lu, Zhongju Z; Xu, Xianjin X; Wang, Hong Zhan HZ; Liang, Hongwu H; Hou, Panpan P; Gao, Junyuan J; Clausen, Chris C; Shi, Jingyi J; Zhao, Wenshan W; Ma, Zhiwei Z; Liu, Yongfeng Y; White, Kelli McFarland KM; Zhao, Lu L; Kang, Po Wei PW; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2021-05-18
Variant appearance in text: KCNQ1: F167R
PubMed Link:
33990467
Variant Present in the following documents:
Main text
View BVdb publication page
Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.
Elife
Taylor, Keenan C KC; Kang, Po Wei PW; Hou, Panpan P; Yang, Nien-Du ND; Kuenze, Georg G; Smith, Jarrod A JA; Shi, Jingyi J; Huang, Hui H; White, Kelli McFarland KM; Peng, Dungeng D; George, Alfred L AL; Meiler, Jens J; McFeeters, Robert L RL; Cui, Jianmin J; Sanders, Charles R CR
Publication Date: 2020-02-25
Variant appearance in text: KCNQ1: F167R
PubMed Link:
32096762
Variant Present in the following documents:
Main text
elife-53901.pdf
View BVdb publication page