KCNQ1 c.311C>G ;(p.T104S)

Variant ID: 11-2466639-C-G

NM_000218.2(KCNQ1):c.311C>G;(p.T104S)

This variant was identified in 2 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: T104S
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.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: T104S
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
  • aar2631_SM.pdf
View BVdb publication page