KCNQ1 c.478G>C ;(p.E160Q)

Variant ID: 11-2591858-G-C

NM_000218.2(KCNQ1):c.478G>C;(p.E160Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: KCNQ1: E160Q
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32
View BVdb publication page



How to Connect Cardiac Excitation to the Atomic Interactions of Ion Channels.

Biophysical Journal
Silva, Jonathan R JR
Publication Date: 2018-01-23

Variant appearance in text: KCNQ1: E160Q
PubMed Link: 29401425
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Bridging the genotype-phenotype gap: what does it take?

The Journal Of Physiology
Gjuvsland, Arne B AB; Vik, Jon Olav JO; Beard, Daniel A DA; Hunter, Peter J PJ; Omholt, Stig W SW
Publication Date: 2013-04-15

Variant appearance in text: KCNQ1: E160Q
PubMed Link: 23401613
Variant Present in the following documents:
  • tjp0591-2055.pdf
View BVdb publication page



Ion channel associated diseases: overview of molecular mechanisms.

Chemical Reviews
Zaydman, Mark A MA; Silva, Jonathan R JR; Cui, Jianmin J
Publication Date: 2012-12-12

Variant appearance in text: KCNQ1: E160Q
PubMed Link: 23151230
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-scale electrophysiology modeling: from atom to organ.

The Journal Of General Physiology
Silva, Jonathan R JR; Rudy, Yoram Y
Publication Date: 2010-06

Variant appearance in text: KCNQ1: E160Q
PubMed Link: 20513759
Variant Present in the following documents:
  • Main text
  • JGP_200910358.pdf
View BVdb publication page



A multiscale model linking ion-channel molecular dynamics and electrostatics to the cardiac action potential.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Silva, Jonathan R JR; Pan, Hua H; Wu, Dick D; Nekouzadeh, Ali A; Decker, Keith F KF; Cui, Jianmin J; Baker, Nathan A NA; Sept, David D; Rudy, Yoram Y
Publication Date: 2009-07-07

Variant appearance in text: KCNQ1: E160Q
PubMed Link: 19549851
Variant Present in the following documents:
  • Main text
View BVdb publication page