KCNQ1 c.718_720delinsGAG ;(p.H240E)

Variant ID: 11-2593277-CAC-GAG

NM_000218.2(KCNQ1):c.718_720delinsGAG;(p.H240E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: H240E
PubMed Link: 32096762
Variant Present in the following documents:
  • Main text
  • elife-53901.pdf
View BVdb publication page