KCNQ1 c.353C>G ;(p.T118S)

Variant ID: 11-2466681-C-G

NM_000218.2(KCNQ1):c.353C>G;(p.T118S)

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: T118S
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.pdf
View BVdb publication page



Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Plos Computational Biology
Phul, Saksham S; Kuenze, Georg G; Vanoye, Carlos G CG; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2022-04

Variant appearance in text: KCNQ1: T118S
PubMed Link: 35442947
Variant Present in the following documents:
  • Main text
  • pcbi.1010038.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: T118S
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
  • aar2631_SM.pdf
View BVdb publication page