KCNQ1 c.304G>T ;(p.A102S)

Variant ID: 11-2466632-G-T

NM_000218.2(KCNQ1):c.304G>T;(p.A102S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: KCNQ1: A102S
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.pdf
View BVdb publication page



Upgraded molecular models of the human KCNQ1 potassium channel.

Plos One
Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
Publication Date: 2019

Variant appearance in text: KCNQ1: A102S
PubMed Link: 31518351
Variant Present in the following documents:
  • Main text
  • pone.0220415.pdf
View BVdb publication page



Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances
Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR
Publication Date: 2018-03

Variant appearance in text: KCNQ1: A102S
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631_SM.pdf
View BVdb publication page