KCNQ1 c.1748_1749delinsAA ;(p.R583Q)

Variant ID: 11-2799221-GC-AA

NM_000218.2(KCNQ1):c.1748_1749delinsAA;(p.R583Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: KCNQ1: R583Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology
Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F
Publication Date: 2012

Variant appearance in text: KCNQ1: R583Q
PubMed Link: 22701429
Variant Present in the following documents:
  • Main text
  • fphar-03-00112.pdf
View BVdb publication page