KCNQ1 c.707T>C ;(p.L236P)

Variant ID: 11-2593266-T-C

NM_000218.2(KCNQ1):c.707T>C;(p.L236P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 707T>C; Leu236Pro
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: L236P
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: L236P
PubMed Link: 35442947
Variant Present in the following documents:
  • Main text
  • pcbi.1010038.pdf
View BVdb publication page



A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology
Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE
Publication Date: 2020-08

Variant appearance in text: KCNQ1: L236P
PubMed Link: 32797034
Variant Present in the following documents:
  • Main text
  • pcbi.1008109.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: L236P
PubMed Link: 31518351
Variant Present in the following documents:
  • Main text
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: KCNQ1: 707T>C; L236P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Probing the Dynamics and Structural Topology of the Reconstituted Human KCNQ1 Voltage Sensor Domain (Q1-VSD) in Lipid Bilayers Using Electron Paramagnetic Resonance Spectroscopy.

Biochemistry
Dixit, Gunjan G; Sahu, Indra D ID; Reynolds, Warren D WD; Wadsworth, Tessa M TM; Harding, Benjamin D BD; Jaycox, Colleen K CK; Dabney-Smith, Carole C; Sanders, Charles R CR; Lorigan, Gary A GA
Publication Date: 2019-02-19

Variant appearance in text: KCNQ1: L236P
PubMed Link: 30620191
Variant Present in the following documents:
  • Main text
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: L236P
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
View BVdb publication page