KCNQ1 c.968G>A ;(p.W323*)

Variant ID: 11-2604711-G-A

NM_000218.2(KCNQ1):c.968G>A;(p.W323*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: KCNQ1: 968G>A
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
View BVdb publication page



A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.

European Journal Of Medical Research
Kalayinia, Samira S; Dalili, Mohammad M; Pourirahim, Maryam M; Maleki, Majid M; Mahdieh, Nejat N
Publication Date: 2023-01-12

Variant appearance in text: KCNQ1: 968G>A
PubMed Link: 36635780
Variant Present in the following documents:
  • Main text
  • 40001_2023_Article_984.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: KCNQ1: 968G>A; W323*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Journal Of The American College Of Cardiology
Lahrouchi, Najim N; Raju, Hariharan H; Lodder, Elisabeth M EM; Papatheodorou, Efstathios E; Ware, James S JS; Papadakis, Michael M; Tadros, Rafik R; Cole, Della D; Skinner, Jonathan R JR; Crawford, Jackie J; Love, Donald R DR; Pua, Chee J CJ; Soh, Bee Y BY; Bhalshankar, Jaydutt D JD; Govind, Risha R; Tfelt-Hansen, Jacob J; Winkel, Bo G BG; van der Werf, Christian C; Wijeyeratne, Yanushi D YD; Mellor, Greg G; Till, Jan J; Cohen, Marta C MC; Tome-Esteban, Maria M; Sharma, Sanjay S; Wilde, Arthur A M AAM; Cook, Stuart A SA; Bezzina, Connie R CR; Sheppard, Mary N MN; Behr, Elijah R ER
Publication Date: 2017-05-02

Variant appearance in text: KCNQ1: W323X
PubMed Link: 28449774
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page