KCNQ1 c.784C>G ;(p.L262V)

Variant ID: 11-2594079-C-G

NM_000218.2(KCNQ1):c.784C>G;(p.L262V)

This variant was identified in 3 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: 784C>G; Leu262Val
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted deep sequencing analyses of long QT syndrome in a Japanese population.

Plos One
Nagata, Yuki Y; Watanabe, Ryo R; Eichhorn, Christian C; Ohno, Seiko S; Aiba, Takeshi T; Ishikawa, Taisuke T; Nakano, Yukiko Y; Aizawa, Yoshiyasu Y; Hayashi, Kenshi K; Murakoshi, Nobuyuki N; Nakajima, Tadashi T; Yagihara, Nobue N; Mishima, Hiroyuki H; Sudo, Takeaki T; Higuchi, Chihiro C; Takahashi, Atsushi A; Sekine, Akihiro A; Makiyama, Takeru T; Tanaka, Yoshihiro Y; Watanabe, Atsuyuki A; Tachibana, Motomi M; Morita, Hiroshi H; Yoshiura, Koh-Ichiro KI; Tsunoda, Tatsuhiko T; Watanabe, Hiroshi H; Kurabayashi, Masahiko M; Nogami, Akihiko A; Kihara, Yasuki Y; Horie, Minoru M; Shimizu, Wataru W; Makita, Naomasa N; Tanaka, Toshihiro T
Publication Date: 2022

Variant appearance in text: KCNQ1: L262V
PubMed Link: 36480497
Variant Present in the following documents:
  • Main text
  • pone.0277242.pdf
View BVdb publication page



Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: KCNQ1: L262V
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page