KCNQ1 c.1986C>G ;(p.Y662*)

Variant ID: 11-2869188-C-G

NM_000218.2(KCNQ1):c.1986C>G;(p.Y662*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology
Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA
Publication Date: 2020

Variant appearance in text: KCNQ1: Tyr662*
PubMed Link: 33013630
Variant Present in the following documents:
  • Main text
  • fneur-11-00925.pdf
View BVdb publication page



Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association
Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK
Publication Date: 2020-01-07

Variant appearance in text: KCNQ1: Tyr662*
PubMed Link: 31865891
Variant Present in the following documents:
  • JAH3-9-e012264.pdf
  • JAH3-9-e012264-s001.pdf
View BVdb publication page



Update on the Genetic Basis of Sudden Unexpected Death in Epilepsy.

International Journal Of Molecular Sciences
Coll, Monica M; Oliva, Antonio A; Grassi, Simone S; Brugada, Ramon R; Campuzano, Oscar O
Publication Date: 2019-04-23

Variant appearance in text: Kv7.1: Tyr662*
PubMed Link: 31018519
Variant Present in the following documents:
  • Main text
  • ijms-20-01979.pdf
View BVdb publication page



Genetic Basis of Sudden Unexpected Death in Epilepsy.

Frontiers In Neurology
Bagnall, Richard D RD; Crompton, Douglas E DE; Semsarian, Christopher C
Publication Date: 2017

Variant appearance in text: KCNQ1: Tyr662*
PubMed Link: 28775708
Variant Present in the following documents:
  • Main text
  • fneur-08-00348.pdf
View BVdb publication page