KCNQ1 c.542_543delinsAA ;(p.R181Q)

Variant ID: 11-2591922-GC-AA

NM_000218.2(KCNQ1):c.542_543delinsAA;(p.R181Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: R181Q
PubMed Link: 33310856
Variant Present in the following documents:
  • Main text
  • abd6798_SM.pdf
  • abd6798.pdf
  • supp_6_50_eabd6798__1.pdf
View BVdb publication page



Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: R181Q
PubMed Link: 33310856
Variant Present in the following documents:
  • Main text
  • abd6798.pdf
  • abd6798_SM.pdf
  • supp_6_50_eabd6798__1.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: KCNQ1: R181Q
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06

Variant appearance in text: Kv7.1: R181Q
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
View BVdb publication page